CG	OMIM_ID	REF_SEQ	e_value	gene	description	disease
CG7461-PA	609575	NP_000009	0	ACADVL;VLCAD	VLCAD	VLCAD deficiency, 201475 (3)
CG3590-PA	608222	NP_000017	0	ADSL	ADENYLOSUCCINASE	Adenylosuccinase deficiency, 103050 (3)
CG9485-PA	610860	NP_000019	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PB	610860	NP_000019	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PC	610860	NP_000019	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG2316-PA	300371	NP_000024	0	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG2316-PB	300371	NP_000024	0	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG2316-PC	300371	NP_000024	0	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG2316-PD	300371	NP_000024	0	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG2316-PE	300371	NP_000024	0	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG2316-PG	300371	NP_000024	0	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG32626-PA	102770	NP_000027	0	AMPD1	AMP DEAMINASE	Myoadenylate deaminase deficiency (3)
CG32626-PB	102770	NP_000027	0	AMPD1	AMP DEAMINASE	Myoadenylate deaminase deficiency (3)
CG32626-PC	102770	NP_000027	0	AMPD1	AMP DEAMINASE	Myoadenylate deaminase deficiency (3)
CG32626-PD	102770	NP_000027	0	AMPD1	AMP DEAMINASE	Myoadenylate deaminase deficiency (3)
CG1651-PA	612641	NP_000028	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PB	612641	NP_000028	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PC	612641	NP_000028	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PD	612641	NP_000028	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PA	612641	NP_000028	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PB	612641	NP_000028	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1886-PA	300011	NP_000043	0	ATP7A;MK;MNK;OHS		Cutis laxa, neonatal (3);Menkes disease, 309400 (3);Occipital horn syndrome, 304150 (3)
CG1886-PA	606882	NP_000044	0	ATP7B;WND		Wilson disease, 277900 (3)
CG1522-PA	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PB	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PC	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PD	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PE	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PF	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PG	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PH	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PI	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG1522-PJ	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG4894-PA	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG4894-PB	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG4894-PC	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG4894-PD	114208	NP_000060	0	CACNA1S;CACNL1A3;CCHL1A3	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL;CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1;CCHL1A3;MUSCLE; CACNL1A3;SUBUNIT	Hypokalemic periodic paralysis, 170400 (3);{Malignant hyperthermia susceptibility 5}, 601887 (3);{Thyrotoxic periodic paralysis, susceptibility to}, 188580 (3)
CG5284-PA	300008	NP_000075	0	CLCK2;CLCN5;DENTS;NPHL1;NPHL2	CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;CLC5	Dent disease, 300009 (3);Hypophosphatemic rickets, 300554 (3);Nephrolithiasis, type I, 310468 (3);Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
CG5284-PB	300008	NP_000075	0	CLCK2;CLCN5;DENTS;NPHL1;NPHL2	CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;CLC5	Dent disease, 300009 (3);Hypophosphatemic rickets, 300554 (3);Nephrolithiasis, type I, 310468 (3);Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
CG7430-PA	238331	NP_000099	0	DLD;LAD;PHE3	BRANCHED CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX, E3 COMPONENT;DIAPHORASE;DIHYDROLIPOYL DEHYDROGENASE;GLYCINE CLEAVAGE SYSTEM L PROTEIN; GCSL;LIPOAMIDE DEHYDROGENASE; LAD;LIPOAMIDE REDUCTASE;LIPOYL DEHYDROGENASE;PYRUVATE DEHYDROGENASE COMPONENT E3; PHE3; E3	Leigh syndrome, 256000 (3);Maple syrup urine disease, type III, 248600 (3)
CG34157-PA	300377	NP_000100	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_000100	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_000100	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_000100	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_000100	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_000100	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_000100	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG2194-PB	612779	NP_000101	0	DPD;DPYD	DPD	5-fluorouracil toxicity, 274270 (3);Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
CG2194-PC	612779	NP_000101	0	DPD;DPYD	DPD	5-fluorouracil toxicity, 274270 (3);Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
CG8019-PA	133510	NP_000113	0	ERCC3;XPB	XPB GENE; XPB	Trichothiodystrophy, 601675 (3);Xeroderma pigmentosum, group B, 610651 (3)
CG10117-PA	608177	NP_000118	0	EXT1	EXT	Chondrosarcoma, 215300 (3);Exostoses, multiple, type 1, 133700 (3)
CG4094-PA	136850	NP_000134	0	FH	FUMARASE	Fumarase deficiency, 606812 (3);Leiomyomatosis and renal cell cancer, 605839 (3);Multiple cutaneous and uterine leiomyomata, 150800 (3)
CG4094-PB	136850	NP_000134	0	FH	FUMARASE	Fumarase deficiency, 606812 (3);Leiomyomatosis and renal cell cancer, 605839 (3);Multiple cutaneous and uterine leiomyomata, 150800 (3)
CG4095-PA	136850	NP_000134	0	FH	FUMARASE	Fumarase deficiency, 606812 (3);Leiomyomatosis and renal cell cancer, 605839 (3);Multiple cutaneous and uterine leiomyomata, 150800 (3)
CG6140-PA	136850	NP_000134	0	FH	FUMARASE	Fumarase deficiency, 606812 (3);Leiomyomatosis and renal cell cancer, 605839 (3);Multiple cutaneous and uterine leiomyomata, 150800 (3)
CG33138-PA	607839	NP_000149	0	GBE1	1,4-@ALPHA-GLUCAN BRANCHING ENZYME;AMYLO-(1,4 to 1,6) TRANSGLUCOSIDASE;AMYLO-(1,4 to 1,6) TRANSGLYCOSYLASE;GBE	Glycogen storage disease IV, 232500 (3)
CG3999-PA	238300	NP_000161	0	GCE;GCSP;GLDC;HYGN1;NKH	GLYCINE CLEAVAGE SYSTEM P PROTEIN; GCSP;GLYCINE DEHYDROGENASE	Glycine encephalopathy, 605899 (3)
CG8251-PA	172400	NP_000166	0	GPI	AUTOCRINE MOTILITY FACTOR; AMF;GLUCOSEPHOSPHATE ISOMERASE;NEUROLEUKIN; NLK;PHOSPHOGLUCOSE ISOMERASE; PGI;PHOSPHOHEXOSE ISOMERASE; PHI	Hemolytic anemia due to glucosephosphate isomerase deficiency (3);Hydrops fetalis, one form (1)
CG8251-PB	172400	NP_000166	0	GPI	AUTOCRINE MOTILITY FACTOR; AMF;GLUCOSEPHOSPHATE ISOMERASE;NEUROLEUKIN; NLK;PHOSPHOGLUCOSE ISOMERASE; PGI;PHOSPHOHEXOSE ISOMERASE; PHI	Hemolytic anemia due to glucosephosphate isomerase deficiency (3);Hydrops fetalis, one form (1)
CG8251-PC	172400	NP_000166	0	GPI	AUTOCRINE MOTILITY FACTOR; AMF;GLUCOSEPHOSPHATE ISOMERASE;NEUROLEUKIN; NLK;PHOSPHOGLUCOSE ISOMERASE; PGI;PHOSPHOHEXOSE ISOMERASE; PHI	Hemolytic anemia due to glucosephosphate isomerase deficiency (3);Hydrops fetalis, one form (1)
CG7003-PA	600678	NP_000170	0	GTBP;HNPCC5;MSH6	G/T MISMATCH-BINDING PROTEIN; GTBP	Colorectal cancer, hereditary nonpolyposis, type 5 (3);Endometrial cancer, familial, 608089 (3);Mismatch repair cancer syndrome, 276300 (3)
CG4389-PA	600890	NP_000173	0	HADHA;MTPA	ALPHA SUBUNIT; HADHA;ECHA;LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE; LCHAD;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT; MTPA;TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT	Fatty liver, acute, of pregnancy, 609016 (3);HELLP syndrome, maternal, of pregnancy, 609016 (3);LCHAD deficiency, 609016 (3);Trifunctional protein deficiency, 609015 (3)
CG4389-PB	600890	NP_000173	0	HADHA;MTPA	ALPHA SUBUNIT; HADHA;ECHA;LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE; LCHAD;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT; MTPA;TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT	Fatty liver, acute, of pregnancy, 609016 (3);HELLP syndrome, maternal, of pregnancy, 609016 (3);LCHAD deficiency, 609016 (3);Trifunctional protein deficiency, 609015 (3)
CG4389-PC	600890	NP_000173	0	HADHA;MTPA	ALPHA SUBUNIT; HADHA;ECHA;LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE; LCHAD;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT; MTPA;TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT	Fatty liver, acute, of pregnancy, 609016 (3);HELLP syndrome, maternal, of pregnancy, 609016 (3);LCHAD deficiency, 609016 (3);Trifunctional protein deficiency, 609015 (3)
CG4581-PA	143450	NP_000174	0	HADHB	BETA SUBUNIT; HADHB;ECHB;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, BETA SUBUNIT;TRIFUNCTIONAL PROTEIN, BETA SUBUNIT	Trifunctional protein deficiency, 609015 (3)
CG18402-PA	147670	NP_000199	0	HHF5;INSR		Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3);Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3);Leprechaunism, 246200 (3);Rabson-Mendenhall syndrome, 262190 (3)
CG5602-PA	126391	NP_000225	0	LIG1	DNA LIGASE I	DNA ligase I deficiency (3)
CG3182-PA	152427	NP_000229	0	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG3182-PB	152427	NP_000229	0	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG4215-PA	162200	NP_000242	0	NF1;NFNS;VRNF;WSS	NEUROFIBROMATOSIS;VON RECKLINGHAUSEN DISEASE	Leukemia, juvenile myelomonocytic, 607785 (3);Melanoma, desmoplastic neurotropic (2);Neurofibromatosis, familial spinal, 162210 (3);Neurofibromatosis, type 1 (3);Neurofibromatosis-Noonan syndrome, 601321 (3);Pseudarthrosis, tibial, in NF1 (3);Watson syndrome, 193520 (3)
CG4215-PA	609309	NP_000242	0	COCA1;FCC1;HNPCC1;MSH2		Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3)
CG9115-PA	300415	NP_000243	0	MTM1;MTMX		Myotubular myopathy, X-linked, 310400 (3)
CG15792-PA	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG15792-PB	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG15792-PC	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG15792-PD	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PA	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PB	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PC	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PD	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PE	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PF	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PG	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PH	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PI	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PJ	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PK	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PL	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG17927-PM	160760	NP_000248	0	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG2146-PA	160777	NP_000250	0	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2146-PB	160777	NP_000250	0	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2146-PC	160777	NP_000250	0	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6976-PA	276903	NP_000251	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PB	276903	NP_000251	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PC	276903	NP_000251	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PD	276903	NP_000251	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7595-PA	276903	NP_000251	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7595-PB	276903	NP_000251	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG12092-PA	607623	NP_000262	0	NPC;NPC1		Niemann-Pick disease, type C1, 257220 (3);Niemann-Pick disease, type D, 257220 (3)
CG5722-PA	607623	NP_000262	0	NPC;NPC1		Niemann-Pick disease, type C1, 257220 (3);Niemann-Pick disease, type D, 257220 (3)
CG4001-PA	610681	NP_000280	0	GSD7;PFKM	PFK, MUSCLE TYPE	Glycogen storage disease VII, 232800 (3)
CG4001-PB	610681	NP_000280	0	GSD7;PFKM	PFK, MUSCLE TYPE	Glycogen storage disease VII, 232800 (3)
CG4001-PC	610681	NP_000280	0	GSD7;PFKM	PFK, MUSCLE TYPE	Glycogen storage disease VII, 232800 (3)
CG7766-PA	306000	NP_000283	0	GSD9A;PHK;PHKA2;PYKL;XLG	GLYCOGEN STORAGE DISEASE IXa1;GLYCOGEN STORAGE DISEASE VIII, FORMERLY;GSD IX;GSD IXa; GSD9A;GSD VIII, FORMERLY; GSD8, FORMERLY;HEPATIC PHOSPHORYLASE KINASE DEFICIENCY; PHK;LIVER GLYCOGENOSIS, X-LINKED, TYPE I;PHOSPHORYLASE KINASE DEFICIENCY OF LIVER; PYK; PYKL;X-LINKED LIVER GLYCOGENOSIS; XLG	Glycogenosis, X-linked hepatic, type I (3);Glycogenosis, X-linked hepatic, type II (3)
CG7766-PB	306000	NP_000283	0	GSD9A;PHK;PHKA2;PYKL;XLG	GLYCOGEN STORAGE DISEASE IXa1;GLYCOGEN STORAGE DISEASE VIII, FORMERLY;GSD IX;GSD IXa; GSD9A;GSD VIII, FORMERLY; GSD8, FORMERLY;HEPATIC PHOSPHORYLASE KINASE DEFICIENCY; PHK;LIVER GLYCOGENOSIS, X-LINKED, TYPE I;PHOSPHORYLASE KINASE DEFICIENCY OF LIVER; PYK; PYKL;X-LINKED LIVER GLYCOGENOSIS; XLG	Glycogenosis, X-linked hepatic, type I (3);Glycogenosis, X-linked hepatic, type II (3)
CG8475-PA	172490	NP_000284	0	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG6199-PA	153454	NP_000293	0	PLOD;PLOD1	LYSINE HYDROXYLASE;LYSYL HYDROXYLASE 1; LH1;LYSYL HYDROXYLASE; LLH; LH	Ehlers-Danlos syndrome, type VI, 225400 (3);Nevo syndrome, 601451 (3)
CG6199-PB	153454	NP_000293	0	PLOD;PLOD1	LYSINE HYDROXYLASE;LYSYL HYDROXYLASE 1; LH1;LYSYL HYDROXYLASE; LLH; LH	Ehlers-Danlos syndrome, type VI, 225400 (3);Nevo syndrome, 601451 (3)
CG9071-PA	603967	NP_000325	0	HYPP;NAC1A;SCN4A	NAV1.4	Cramps, familial, potassium-aggravated (3);Hyperkalemic periodic paralysis, 170500 (3);Hypokalemic periodic paralysis, 170400 (3);Myasthenic syndrome (3);Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3);Paramyotonia congenita, 168300 (3)
CG9071-PB	603967	NP_000325	0	HYPP;NAC1A;SCN4A	NAV1.4	Cramps, familial, potassium-aggravated (3);Hyperkalemic periodic paralysis, 170500 (3);Hypokalemic periodic paralysis, 170400 (3);Myasthenic syndrome (3);Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3);Paramyotonia congenita, 168300 (3)
CG9907-PA	603967	NP_000325	0	HYPP;NAC1A;SCN4A	NAV1.4	Cramps, familial, potassium-aggravated (3);Hyperkalemic periodic paralysis, 170500 (3);Hypokalemic periodic paralysis, 170400 (3);Myasthenic syndrome (3);Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3);Paramyotonia congenita, 168300 (3)
CG9907-PB	603967	NP_000325	0	HYPP;NAC1A;SCN4A	NAV1.4	Cramps, familial, potassium-aggravated (3);Hyperkalemic periodic paralysis, 170500 (3);Hypokalemic periodic paralysis, 170400 (3);Myasthenic syndrome (3);Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3);Paramyotonia congenita, 168300 (3)
CG9907-PC	603967	NP_000325	0	HYPP;NAC1A;SCN4A	NAV1.4	Cramps, familial, potassium-aggravated (3);Hyperkalemic periodic paralysis, 170500 (3);Hypokalemic periodic paralysis, 170400 (3);Myasthenic syndrome (3);Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3);Paramyotonia congenita, 168300 (3)
CG9071-PA	600163	NP_000326	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9071-PB	600163	NP_000326	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PA	600163	NP_000326	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PB	600163	NP_000326	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PC	600163	NP_000326	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG31547-PA	600839	NP_000329	0	NKCC2;SLC12A1	MEMBER 1; SLC12A1;SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2; NKCC2	Bartter syndrome, type 1, 601678 (3)
CG31547-PB	600839	NP_000329	0	NKCC2;SLC12A1	MEMBER 1; SLC12A1;SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2; NKCC2	Bartter syndrome, type 1, 601678 (3)
CG4357-PA	600839	NP_000329	0	NKCC2;SLC12A1	MEMBER 1; SLC12A1;SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2; NKCC2	Bartter syndrome, type 1, 601678 (3)
CG4357-PB	600839	NP_000329	0	NKCC2;SLC12A1	MEMBER 1; SLC12A1;SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2; NKCC2	Bartter syndrome, type 1, 601678 (3)
CG31547-PA	600968	NP_000330	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG31547-PB	600968	NP_000330	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG4357-PA	600968	NP_000330	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG4357-PB	600968	NP_000330	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG5870-PA	182870	NP_000338	0	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG7642-PA	607633	NP_000370	0	XDH	XANTHINE OXIDASE; XO;XANTHINE OXIDOREDUCTASE; XOR	Xanthinuria, type I, 278300 (3)
CG10505-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG11897-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG11897-PB	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG14709-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG31792-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG31793-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG4562-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG5789-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PB	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PC	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PD	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PE	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PF	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PG	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PH	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PI	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PJ	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PK	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PL	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PM	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PN	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PO	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PP	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG6214-PQ	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG7627-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG8799-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG9270-PA	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG9270-PB	601107	NP_000383	0	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG9433-PA	126340	NP_000391	0	COFS2;EM9;ERCC2;XPD	DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION;OF; EM9;XPD GENE; XPD	Cerebrooculofacioskeletal syndrome 2, 610756 (3);Trichothiodystrophy, 601675 (3);Xeroderma pigmentosum, group D, 278730 (3)
CG9433-PB	126340	NP_000391	0	COFS2;EM9;ERCC2;XPD	DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION;OF; EM9;XPD GENE; XPD	Cerebrooculofacioskeletal syndrome 2, 610756 (3);Trichothiodystrophy, 601675 (3);Xeroderma pigmentosum, group D, 278730 (3)
CG8433-PA	608210	NP_000392	0	EXT2		Exostoses, multiple, type 2, 133701 (3)
CG8433-PB	608210	NP_000392	0	EXT2		Exostoses, multiple, type 2, 133701 (3)
CG12529-PA	305900	NP_000393	0	G6PD;G6PD1		Favism (3);G6PD deficiency (3);Hemolytic anemia due to G6PD deficiency (3)
CG12529-PB	305900	NP_000393	0	G6PD;G6PD1		Favism (3);G6PD deficiency (3);Hemolytic anemia due to G6PD deficiency (3)
CG8256-PA	138430	NP_000399	0	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG8256-PB	138430	NP_000399	0	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG8256-PC	138430	NP_000399	0	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG15288-PA	156225	NP_000417	0	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG15288-PB	156225	NP_000417	0	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG3936-PA	600276	NP_000426	0	CADASIL;CASIL;NOTCH3		Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3)
CG10181-PA	171060	NP_000434	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG10226-PA	171060	NP_000434	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG3879-PA	171060	NP_000434	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG8523-PA	171060	NP_000434	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG32626-PA	102772	NP_000471	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PB	102772	NP_000471	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PC	102772	NP_000471	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PD	102772	NP_000471	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG4548-PA	300032	NP_000480	0	ATRX;MRXHF1;SFM1;SHS;XH2;XNP	HELICASE 2, X-LINKED; XH2;X-LINKED NUCLEAR PROTEIN GENE; XNP	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3);Alpha-thalassemia/mental retardation syndrome, 301040 (3);Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
CG4548-PB	300032	NP_000480	0	ATRX;MRXHF1;SFM1;SHS;XH2;XNP	HELICASE 2, X-LINKED; XH2;X-LINKED NUCLEAR PROTEIN GENE; XNP	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3);Alpha-thalassemia/mental retardation syndrome, 301040 (3);Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
CG5322-PA	609458	NP_000519	0	MAN2B1;MANB	LAMAN;MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB	Mannosidosis, alpha-, types I and II, 248500 (3)
CG6206-PA	609458	NP_000519	0	MAN2B1;MANB	LAMAN;MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB	Mannosidosis, alpha-, types I and II, 248500 (3)
CG6206-PB	609458	NP_000519	0	MAN2B1;MANB	LAMAN;MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB	Mannosidosis, alpha-, types I and II, 248500 (3)
CG9463-PA	609458	NP_000519	0	MAN2B1;MANB	LAMAN;MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB	Mannosidosis, alpha-, types I and II, 248500 (3)
CG9465-PA	609458	NP_000519	0	MAN2B1;MANB	LAMAN;MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB	Mannosidosis, alpha-, types I and II, 248500 (3)
CG9466-PA	609458	NP_000519	0	MAN2B1;MANB	LAMAN;MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB	Mannosidosis, alpha-, types I and II, 248500 (3)
CG9468-PA	609458	NP_000519	0	MAN2B1;MANB	LAMAN;MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB	Mannosidosis, alpha-, types I and II, 248500 (3)
CG10844-PA	180901	NP_000531	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG10844-PB	180901	NP_000531	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG10844-PC	180901	NP_000531	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG10844-PD	180901	NP_000531	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG6713-PA	163729	NP_000594	0	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG6713-PC	163729	NP_000594	0	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG6713-PE	163729	NP_000594	0	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG6713-PA	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PB	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PC	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PE	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PF	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PG	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PH	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PI	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PJ	163731	NP_000611	0	IHPS1;NOS1		{Pyloric stenosis, infantile hypertrophic, 1, susceptibility to}, 179010 (3)
CG6713-PA	163730	NP_000616	0	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG6713-PC	163730	NP_000616	0	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG9485-PA	610860	NP_000633	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PB	610860	NP_000633	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PC	610860	NP_000633	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PA	610860	NP_000634	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PB	610860	NP_000634	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PC	610860	NP_000634	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PA	610860	NP_000635	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PB	610860	NP_000635	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PC	610860	NP_000635	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PA	610860	NP_000636	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PB	610860	NP_000636	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PC	610860	NP_000636	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PA	610860	NP_000637	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PB	610860	NP_000637	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG9485-PC	610860	NP_000637	0	AGL;GDE	GLYCOGEN DEBRANCHER ENZYME; GDE	Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3)
CG11654-PA	180960	NP_000678	0	AHCY;SAHH	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE,;SAHH	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3)
CG3752-PA	100650	NP_000681	0	ALDH2	ACETALDEHYDE DEHYDROGENASE 2;ALDEHYDE DEHYDROGENASE 2;ALDH, LIVER MITOCHONDRIAL	Alcohol sensitivity, acute, 610251 (3);{Hangover, susceptibility to}, 610251 (3);{Sublingual nitroglycerin, susceptibility to poor response to} (3)
CG5670-PA	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG5670-PB	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG5670-PC	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG5670-PD	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG5670-PE	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG5670-PF	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG5670-PG	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG5670-PH	182340	NP_000693	0	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG1522-PA	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_000710	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG11144-PA	604096	NP_000834	0	CSNB1B;GRM6;MGLUR6	MGLUR6	Night blindness, congenital stationary, type 1B, 257270 (3)
CG10367-PA	142910	NP_000850	0	HMGCR;LDLCQ3	HMG-CoA REDUCTASE;LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	[Low density lipoprotein cholesterol level QTL 3] (3);[Statins, attenuated cholesterol lowering by] (3)
CG10367-PB	142910	NP_000850	0	HMGCR;LDLCQ3	HMG-CoA REDUCTASE;LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	[Low density lipoprotein cholesterol level QTL 3] (3);[Statins, attenuated cholesterol lowering by] (3)
CG18402-PA	147370	NP_000866	0	IGF1R		Insulin-like growth factor I, resistance to, 270450 (3)
CG1799-PA	146690	NP_000874	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PB	146690	NP_000874	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PC	146690	NP_000874	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PA	146691	NP_000875	0	IMPDH2;IMPD2	INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE II; IMPD2	[IMPDH2 enzyme activity, variation in] (3)
CG1799-PB	146691	NP_000875	0	IMPDH2;IMPD2	INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE II; IMPD2	[IMPDH2 enzyme activity, variation in] (3)
CG1799-PC	146691	NP_000875	0	IMPDH2;IMPD2	INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE II; IMPD2	[IMPDH2 enzyme activity, variation in] (3)
CG1516-PA	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PB	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PD	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PE	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PG	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PI	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PJ	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PK	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PL	608786	NP_000911	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG10181-PA	171050	NP_000918	0	ABCB1;IBD13;MDR1;PGY1	DOXORUBICIN RESISTANCE;GP170;MULTIDRUG RESISTANCE 1; MDR1;P-GLYCOPROTEIN 1; PGY1	Colchicine resistance (3);{Inflammatory bowel disease 13, susceptibility to}, 612244 (3)
CG10226-PA	171050	NP_000918	0	ABCB1;IBD13;MDR1;PGY1	DOXORUBICIN RESISTANCE;GP170;MULTIDRUG RESISTANCE 1; MDR1;P-GLYCOPROTEIN 1; PGY1	Colchicine resistance (3);{Inflammatory bowel disease 13, susceptibility to}, 612244 (3)
CG3879-PA	171050	NP_000918	0	ABCB1;IBD13;MDR1;PGY1	DOXORUBICIN RESISTANCE;GP170;MULTIDRUG RESISTANCE 1; MDR1;P-GLYCOPROTEIN 1; PGY1	Colchicine resistance (3);{Inflammatory bowel disease 13, susceptibility to}, 612244 (3)
CG8523-PA	171050	NP_000918	0	ABCB1;IBD13;MDR1;PGY1	DOXORUBICIN RESISTANCE;GP170;MULTIDRUG RESISTANCE 1; MDR1;P-GLYCOPROTEIN 1; PGY1	Colchicine resistance (3);{Inflammatory bowel disease 13, susceptibility to}, 612244 (3)
CG11567-PA	124015	NP_000932	0	POR	CYTOCHROME P450 REDUCTASE	Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency, 201750 (3);Antley-Bixler syndrome-like with disordered steroidogenesis, 201750 (3);Disordered steroidogenesis, isolated, 201750 (3);POR deficiency, 201750 (3)
CG11567-PB	124015	NP_000932	0	POR	CYTOCHROME P450 REDUCTASE	Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency, 201750 (3);Antley-Bixler syndrome-like with disordered steroidogenesis, 201750 (3);Disordered steroidogenesis, isolated, 201750 (3);POR deficiency, 201750 (3)
CG2165-PA	108733	NP_001001331	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PB	108733	NP_001001331	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PC	108733	NP_001001331	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PD	108733	NP_001001331	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PE	108733	NP_001001331	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG32451-PA	604384	NP_001001485	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PB	604384	NP_001001485	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PC	604384	NP_001001485	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PA	604384	NP_001001486	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PB	604384	NP_001001486	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PC	604384	NP_001001486	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PA	604384	NP_001001487	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PB	604384	NP_001001487	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PC	604384	NP_001001487	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG18102-PA	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PB	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PC	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PD	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PE	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PF	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PG	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PH	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PI	602378	NP_001005360	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PA	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PB	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PC	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PD	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PE	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PF	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PG	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PH	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PI	602378	NP_001005361	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PA	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PB	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PC	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PD	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PE	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PF	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PG	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PH	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PI	602378	NP_001005362	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG15899-PB	607904	NP_001005407	0	CACNA1H;EIG6		{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CG10693-PA	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PB	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PC	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PD	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PE	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PF	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PG	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PH	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PI	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PJ	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PK	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PL	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PM	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PN	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PO	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PP	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PQ	600150	NP_001014797	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG8363-PA	603005	NP_001015880	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PB	603005	NP_001015880	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PC	603005	NP_001015880	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PD	603005	NP_001015880	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PE	603005	NP_001015880	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PF	603005	NP_001015880	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG7470-PA	138250	NP_001017423	0	PYCS;GSAS	1-@PYRROLINE-5-CARBOXYLATE SYNTHETASE; PYCS;GLUTAMATE GAMMA-SEMIALDEHYDE SYNTHETASE; GSAS;P5CS	Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities, 612652 (3)
CG2093-PA	605978	NP_001018047	0	CHAC;VPS13A	CHAC GENE; CHAC;CHOREIN;KIAA0986	Choreoacanthocytosis, 200150 (3)
CG2093-PA	605978	NP_001018048	0	CHAC;VPS13A	CHAC GENE; CHAC;CHOREIN;KIAA0986	Choreoacanthocytosis, 200150 (3)
CG18214-PA	604605	NP_001019831	0		SERINE/THREONINE PROTEIN KINASE WITH DBL HOMOLOGY AND PLECKSTRIN HOMOLOGY	
CG18214-PC	604605	NP_001019831	0		SERINE/THREONINE PROTEIN KINASE WITH DBL HOMOLOGY AND PLECKSTRIN HOMOLOGY	
CG5870-PA	182870	NP_001020029	0	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG32626-PA	102772	NP_001020560	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PB	102772	NP_001020560	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PC	102772	NP_001020560	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PD	102772	NP_001020560	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PA	102772	NP_001020561	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PB	102772	NP_001020561	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PC	102772	NP_001020561	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG32626-PD	102772	NP_001020561	0	AMPD3		[AMP deaminase deficiency, erythrocytic], 612874 (3)
CG10844-PA	180902	NP_001026	0	ARVC2;ARVD2;RYR2;VTSIP	RYANODINE RECEPTOR, CARDIAC	Arrhythmogenic right ventricular dysplasia 2, 600996 (3);Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
CG10844-PB	180902	NP_001026	0	ARVC2;ARVD2;RYR2;VTSIP	RYANODINE RECEPTOR, CARDIAC	Arrhythmogenic right ventricular dysplasia 2, 600996 (3);Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
CG10844-PC	180902	NP_001026	0	ARVC2;ARVD2;RYR2;VTSIP	RYANODINE RECEPTOR, CARDIAC	Arrhythmogenic right ventricular dysplasia 2, 600996 (3);Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
CG10844-PD	180902	NP_001026	0	ARVC2;ARVD2;RYR2;VTSIP	RYANODINE RECEPTOR, CARDIAC	Arrhythmogenic right ventricular dysplasia 2, 600996 (3);Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
CG8475-PA	172490	NP_001027005	0	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG12891-PA	600528	NP_001027017	0	CPT1A	CPT I, LIVER;CPT IA;CPT1	CPT deficiency, hepatic, type IA, 255120 (3)
CG12891-PB	600528	NP_001027017	0	CPT1A	CPT I, LIVER;CPT IA;CPT1	CPT deficiency, hepatic, type IA, 255120 (3)
CG15811-PA	602926	NP_001027392	0	EIEE4;STXBP1;UNC18	MUNC18-1;UNC18, C. ELEGANS, HOMOLOG OF, 1	Epileptic encephalopathy, early infantile, 4, 612164 (2)
CG7461-PA	609575	NP_001029031	0	ACADVL;VLCAD	VLCAD	VLCAD deficiency, 201475 (3)
CG8380-PA	163970	NP_001034	0	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG15792-PA	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PB	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PC	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PD	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PA	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PB	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PC	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PD	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PE	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PF	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PG	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PH	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PI	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PJ	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PK	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PL	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PM	160745	NP_001035202	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PA	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PB	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PC	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PD	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PA	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PB	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PC	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PD	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PE	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PF	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PG	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PH	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PI	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PJ	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PK	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PL	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PM	160745	NP_001035203	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9071-PA	182390	NP_001035232	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9071-PB	182390	NP_001035232	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PA	182390	NP_001035232	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PB	182390	NP_001035232	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PC	182390	NP_001035232	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9071-PA	182390	NP_001035233	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9071-PB	182390	NP_001035233	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PA	182390	NP_001035233	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PB	182390	NP_001035233	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PC	182390	NP_001035233	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG1516-PA	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PB	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PD	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PE	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PG	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PI	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PJ	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PK	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PL	608786	NP_001035806	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG12529-PA	305900	NP_001035810	0	G6PD;G6PD1		Favism (3);G6PD deficiency (3);Hemolytic anemia due to G6PD deficiency (3)
CG12529-PB	305900	NP_001035810	0	G6PD;G6PD1		Favism (3);G6PD deficiency (3);Hemolytic anemia due to G6PD deficiency (3)
CG5594-PA	604878	NP_001035959	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PB	604878	NP_001035959	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PC	604878	NP_001035959	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PD	604878	NP_001035959	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PA	604878	NP_001035960	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PB	604878	NP_001035960	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PC	604878	NP_001035960	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PD	604878	NP_001035960	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PA	604878	NP_001035961	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PB	604878	NP_001035961	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PC	604878	NP_001035961	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PD	604878	NP_001035961	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PA	604878	NP_001035962	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PB	604878	NP_001035962	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PC	604878	NP_001035962	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PD	604878	NP_001035962	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG4545-PA	182138	NP_001036	0	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG10844-PA	180901	NP_001036188	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG10844-PB	180901	NP_001036188	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG10844-PC	180901	NP_001036188	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG10844-PD	180901	NP_001036188	0	CCO;MHS;RYR1	RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL;SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR	Central core disease, 117000 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3)
CG10223-PA	126430	NP_001058	0	TOP2;TOP2A	DNA TOPOISOMERASE II; TOP2	DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
CG15792-PA	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PB	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PC	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PD	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PA	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PB	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PC	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PD	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PE	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PF	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PG	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PH	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PI	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PJ	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PK	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PL	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PM	608568	NP_001070654	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG32702-PA	602997	NP_001072	0	CUBN;IFCR;MGA1	INTRINSIC FACTOR-COBALAMIN RECEPTOR; IFCR	Megaloblastic anemia-1, Finnish type, 261100 (3)
CG15288-PA	156225	NP_001073291	0	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG15288-PB	156225	NP_001073291	0	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG15319-PB	600140	NP_001073315	0	CBP;CREBBP;RSTS	CBP	Rubenstein-Taybi syndrome, 180849 (3)
CG8711-PA	300304	NP_001073341	0	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG2146-PA	606540	NP_001073936	0	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG2146-PB	606540	NP_001073936	0	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG2146-PC	606540	NP_001073936	0	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG6199-PA	603066	NP_001075	0	PLOD3	LYSINE HYDROXYLASE 3; LH3;LYSYL HYDROXYLASE 3	Lysyl hydroxylase 3 deficiency, 612394 (3)
CG6199-PB	603066	NP_001075	0	PLOD3	LYSINE HYDROXYLASE 3; LH3;LYSYL HYDROXYLASE 3	Lysyl hydroxylase 3 deficiency, 612394 (3)
CG8256-PA	138430	NP_001076581	0	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG8256-PB	138430	NP_001076581	0	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG8256-PC	138430	NP_001076581	0	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG1718-PA	601615	NP_001080	0	ABC3;ABCA3;SMDP3	ABC TRANSPORTER 3;ATP-BINDING CASSETTE 3; ABC3;ATP-BINDING CASSETTE TRANSPORTER 3;CED7, C. ELEGANS, HOMOLOG OF	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
CG6052-PA	601615	NP_001080	0	ABC3;ABCA3;SMDP3	ABC TRANSPORTER 3;ATP-BINDING CASSETTE 3; ABC3;ATP-BINDING CASSETTE TRANSPORTER 3;CED7, C. ELEGANS, HOMOLOG OF	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
CG10067-PA	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG12051-PA	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG18290-PA	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG18290-PB	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG4027-PA	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG4027-PB	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG4027-PC	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG4027-PD	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG5178-PA	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG7478-PA	102610	NP_001091	0	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG11579-PA	116806	NP_001091679	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PB	116806	NP_001091679	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PC	116806	NP_001091679	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PD	116806	NP_001091679	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PE	116806	NP_001091679	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PA	116806	NP_001091680	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PB	116806	NP_001091680	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PC	116806	NP_001091680	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PD	116806	NP_001091680	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PE	116806	NP_001091680	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG4675-PA	603345	NP_001091954	0	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG4675-PB	603345	NP_001091954	0	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG10067-PA	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG12051-PA	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG18290-PA	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG18290-PB	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG4027-PA	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG4027-PB	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG4027-PC	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG4027-PD	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG5178-PA	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG7478-PA	102630	NP_001092	0	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG9071-PA	600163	NP_001092874	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9071-PB	600163	NP_001092874	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PA	600163	NP_001092874	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PB	600163	NP_001092874	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PC	600163	NP_001092874	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PA	600163	NP_001092875	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PB	600163	NP_001092875	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PC	600163	NP_001092875	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG1063-PA	147265	NP_001093422	0	ITPR1;SCA15;SCA16	IP3R;IP3R1	Spinocerebellar ataxia 15, 606658 (3)
CG1063-PB	147265	NP_001093422	0	ITPR1;SCA15;SCA16	IP3R;IP3R1	Spinocerebellar ataxia 15, 606658 (3)
CG15792-PA	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG15792-PB	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG15792-PC	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG15792-PD	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PA	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PB	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PC	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PD	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PE	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PF	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PG	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PH	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PI	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PJ	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PK	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PL	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PM	160740	NP_001093582	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG4376-PA	102573	NP_001094	0	ACTN2;CMD1AA		Cardiomyopathy, dilated, 1AA, 612158 (3)
CG4376-PB	102573	NP_001094	0	ACTN2;CMD1AA		Cardiomyopathy, dilated, 1AA, 612158 (3)
CG4376-PC	102573	NP_001094	0	ACTN2;CMD1AA		Cardiomyopathy, dilated, 1AA, 612158 (3)
CG4376-PA	102574	NP_001095	0	ACTN3		[Alpha-actinin-3 deficiency] (3);[Sprinting performance] (3)
CG4376-PB	102574	NP_001095	0	ACTN3		[Alpha-actinin-3 deficiency] (3);[Sprinting performance] (3)
CG4376-PC	102574	NP_001095	0	ACTN3		[Alpha-actinin-3 deficiency] (3);[Sprinting performance] (3)
CG5722-PA	608010	NP_001095118	0	NPC1L1		[Ezetimibe, nonresponse to] (3)
CG1799-PA	146690	NP_001096075	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PB	146690	NP_001096075	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PC	146690	NP_001096075	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG3937-PA	300017	NP_001104026	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG3937-PB	300017	NP_001104026	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG3937-PC	300017	NP_001104026	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG3937-PD	300017	NP_001104026	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG9565-PA	600423	NP_001106818	0	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG9565-PA	600423	NP_001106819	0	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG9565-PA	600423	NP_001106820	0	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG18572-PA	608307	NP_001116105	0	CPS1	VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY	Carbamoylphosphate synthetase I deficiency, 237300 (3);{Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3);{Venoocclusive disease after bone marrow transplantation} (3)
CG18572-PB	608307	NP_001116105	0	CPS1	VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY	Carbamoylphosphate synthetase I deficiency, 237300 (3);{Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3);{Venoocclusive disease after bone marrow transplantation} (3)
CG18572-PA	608307	NP_001116106	0	CPS1	VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY	Carbamoylphosphate synthetase I deficiency, 237300 (3);{Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3);{Venoocclusive disease after bone marrow transplantation} (3)
CG18572-PB	608307	NP_001116106	0	CPS1	VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY	Carbamoylphosphate synthetase I deficiency, 237300 (3);{Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3);{Venoocclusive disease after bone marrow transplantation} (3)
CG7766-PA	311870	NP_001116142	0	PHKA1		Muscle glycogenosis, 300559 (3)
CG7766-PB	311870	NP_001116142	0	PHKA1		Muscle glycogenosis, 300559 (3)
CG6703-PA	300172	NP_001119526	0	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG6703-PB	300172	NP_001119526	0	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG6703-PA	300172	NP_001119527	0	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG6703-PB	300172	NP_001119527	0	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG31547-PA	600968	NP_001119579	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG31547-PB	600968	NP_001119579	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG4357-PA	600968	NP_001119579	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG4357-PB	600968	NP_001119579	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG4357-PA	600968	NP_001119580	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG4357-PB	600968	NP_001119580	0	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG8987-PA	174763	NP_001119603	0	PEO;POLG;POLG1;POLGA;SANDO;SCAE	POLG, CATALYTIC SUBUNIT;POLG-ALPHA; POLGA;POLYMERASE, DNA, GAMMA-1; POLG1	Alpers syndrome, 203700 (3);MNGIE without leukoencephalopathy, 603041;Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadiam, 157640 (3);Progressive external ophthalmoplegia, autosomal recessive, 258450 (3);Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, 607459 (3);Spinocerebellar ataxia with epilepsy, 607459 (3)
CG6976-PA	276903	NP_001120651	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PB	276903	NP_001120651	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PC	276903	NP_001120651	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PD	276903	NP_001120651	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7595-PA	276903	NP_001120651	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7595-PB	276903	NP_001120651	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PA	276903	NP_001120652	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PB	276903	NP_001120652	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PC	276903	NP_001120652	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PD	276903	NP_001120652	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7595-PA	276903	NP_001120652	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7595-PB	276903	NP_001120652	0	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG1522-PA	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PB	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PC	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PD	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PE	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PF	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PG	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PH	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PI	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PJ	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PA	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PB	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PC	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PD	601011	NP_001120693	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PA	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PB	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PC	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PD	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PE	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PF	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PG	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PH	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PI	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG1522-PJ	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PA	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PB	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PC	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG4894-PD	601011	NP_001120694	0	CACNA1A;CACNL1A4;SCA6	CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;CaV2.1	Cerebellar ataxia, pure (3);Episodic ataxia, type 2, 108500 (3);Hemiplegic migraine, familial, 141500 (3);Spinocerebellar ataxia-6, 183086 (3)
CG6235-PA	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PB	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PC	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PD	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PE	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PF	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PG	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PH	604325	NP_001120853	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG3937-PA	102565	NP_001120959	0	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG3937-PD	102565	NP_001120959	0	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG1651-PA	106410	NP_001120965	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PB	106410	NP_001120965	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PC	106410	NP_001120965	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PD	106410	NP_001120965	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG7462-PA	106410	NP_001120965	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG7462-PB	106410	NP_001120965	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG3869-PA	608507	NP_001121132	0	CMT2A2;KIAA0214;MFN2	KIAA0214	Charcot-Marie-Tooth disease, type 2A2, 609260 (3);Hereditary motor and sensory neuropathy VI, 601152 (3)
CG3869-PB	608507	NP_001121132	0	CMT2A2;KIAA0214;MFN2	KIAA0214	Charcot-Marie-Tooth disease, type 2A2, 609260 (3);Hereditary motor and sensory neuropathy VI, 601152 (3)
CG3869-PC	608507	NP_001121132	0	CMT2A2;KIAA0214;MFN2	KIAA0214	Charcot-Marie-Tooth disease, type 2A2, 609260 (3);Hereditary motor and sensory neuropathy VI, 601152 (3)
CG10236-PA	600805	NP_001121189	0	LAMA3;LOCS	BM600;EPILIGRIN, 170-KD SUBUNIT;LAM5, ALPHA-3 SUBUNIT;LAMININ 5, ALPHA-3 SUBUNIT;LAMININ A3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3);Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);Laryngoonychocutaneous syndrome, 245660 (3)
CG5284-PA	300008	NP_001121370	0	CLCK2;CLCN5;DENTS;NPHL1;NPHL2	CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;CLC5	Dent disease, 300009 (3);Hypophosphatemic rickets, 300554 (3);Nephrolithiasis, type I, 310468 (3);Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
CG5284-PB	300008	NP_001121370	0	CLCK2;CLCN5;DENTS;NPHL1;NPHL2	CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;CLC5	Dent disease, 300009 (3);Hypophosphatemic rickets, 300554 (3);Nephrolithiasis, type I, 310468 (3);Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
CG5284-PA	300008	NP_001121371	0	CLCK2;CLCN5;DENTS;NPHL1;NPHL2	CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;CLC5	Dent disease, 300009 (3);Hypophosphatemic rickets, 300554 (3);Nephrolithiasis, type I, 310468 (3);Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
CG5284-PB	300008	NP_001121371	0	CLCK2;CLCN5;DENTS;NPHL1;NPHL2	CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;CLC5	Dent disease, 300009 (3);Hypophosphatemic rickets, 300554 (3);Nephrolithiasis, type I, 310468 (3);Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
CG1522-PA	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123299	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123301	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123302	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123303	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123304	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123305	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123306	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123307	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123308	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123309	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123310	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123311	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123312	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123313	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123314	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123315	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123316	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PA	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_001123318	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4675-PA	603345	NP_001128214	0	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG4675-PB	603345	NP_001128214	0	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG3725-PA	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PB	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PC	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PD	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PE	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PF	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PG	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PH	108740	NP_001129237	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG10067-PA	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG12051-PA	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG18290-PA	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG18290-PB	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PA	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PB	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PC	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PD	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG5178-PA	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG7478-PA	102620	NP_001135417	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG1651-PA	612641	NP_001135918	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PB	612641	NP_001135918	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PC	612641	NP_001135918	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PD	612641	NP_001135918	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PA	612641	NP_001135918	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PB	612641	NP_001135918	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG2146-PA	160777	NP_001135967	0	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2146-PB	160777	NP_001135967	0	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2146-PC	160777	NP_001135967	0	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG3736-PA	603615	NP_001136020	0	HR54;HRAD54;RAD54L	HR54;HRAD54	Breast cancer, invasive intraductal (3);Colon adenocarcinoma (3);Lymphoma, non-Hodgkin (3)
CG1799-PA	146690	NP_001136045	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PB	146690	NP_001136045	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PC	146690	NP_001136045	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PA	146690	NP_001136046	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PB	146690	NP_001136046	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PC	146690	NP_001136046	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PA	146690	NP_001136047	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PC	146690	NP_001136047	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PA	146690	NP_001136048	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PB	146690	NP_001136048	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PC	146690	NP_001136048	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG6938-PA	608662	NP_001136121	0	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG1651-PA	106410	NP_001139	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PB	106410	NP_001139	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PC	106410	NP_001139	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PD	106410	NP_001139	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG7462-PA	106410	NP_001139	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG7462-PB	106410	NP_001139	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG6214-PA	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PB	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PC	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PD	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PE	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PF	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PG	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PH	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PI	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PJ	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PK	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PL	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PM	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PN	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PO	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PP	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6214-PQ	603234	NP_001162	0	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG4252-PA	601215	NP_001175	0	ATR;FRP1;SCKL	FRAP-RELATED PROTEIN 1; FRP1	Seckel syndrome 1, 210600 (3)
CG15804-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG15804-PB	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG17150-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG1842-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG3339-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG3339-PB	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG3723-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG5526-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG7092-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG7507-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG7507-PB	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG9492-PA	603335	NP_001360	0	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG9565-PA	600423	NP_001388	0	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG15319-PB	602700	NP_001420	0	EP300	p300	Colorectal cancer, 114500 (3);Rubinstein-Taybi syndrome, 180849 (3)
CG3937-PA	300017	NP_001447	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG3937-PB	300017	NP_001447	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG3937-PC	300017	NP_001447	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG3937-PD	300017	NP_001447	0	FLN1;FLNA;FMD;MNS;NHBP;OPD1;OPD2	ACTIN-BINDING PROTEIN 280; ABP280;FILAMIN 1; FLN1;FILAMIN, ALPHA;FLN	FG syndrome 2, 300321 (3);Frontometaphyseal dysplasia, 305620 (3);Heterotopia, periventricular, 300049 (3);Heterotopia, periventricular, ED variant, 300537 (3);Intestinal pseudoobstruction, neuronal, 300048 (3);Melnick-Needles syndrome, 309350 (3);Otopalatodigital syndrome, type I, 311300 (3);Otopalatodigital syndrome, type II, 304120 (3)
CG3937-PA	603381	NP_001448	0	AOI;FLNB;LRS1;SCT	ACTIN-BINDING PROTEIN 276/278; ABP276/278;FILAMIN, BETA	Atelosteogenesis, type III, 108721 (3);Atelostogenesis, type I, 108720 (3);Boomerang dysplasia, 112310 (3);Larsen syndrome, 150250 (3);Spondylocarpotarsal synostosis syndrome, 272460 (3)
CG3937-PB	603381	NP_001448	0	AOI;FLNB;LRS1;SCT	ACTIN-BINDING PROTEIN 276/278; ABP276/278;FILAMIN, BETA	Atelosteogenesis, type III, 108721 (3);Atelostogenesis, type I, 108720 (3);Boomerang dysplasia, 112310 (3);Larsen syndrome, 150250 (3);Spondylocarpotarsal synostosis syndrome, 272460 (3)
CG3937-PC	603381	NP_001448	0	AOI;FLNB;LRS1;SCT	ACTIN-BINDING PROTEIN 276/278; ABP276/278;FILAMIN, BETA	Atelosteogenesis, type III, 108721 (3);Atelostogenesis, type I, 108720 (3);Boomerang dysplasia, 112310 (3);Larsen syndrome, 150250 (3);Spondylocarpotarsal synostosis syndrome, 272460 (3)
CG3937-PD	603381	NP_001448	0	AOI;FLNB;LRS1;SCT	ACTIN-BINDING PROTEIN 276/278; ABP276/278;FILAMIN, BETA	Atelosteogenesis, type III, 108721 (3);Atelostogenesis, type I, 108720 (3);Boomerang dysplasia, 112310 (3);Larsen syndrome, 150250 (3);Spondylocarpotarsal synostosis syndrome, 272460 (3)
CG3937-PA	102565	NP_001449	0	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG3937-PD	102565	NP_001449	0	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG2259-PA	606857	NP_001489	0	GCLC;GLCLC	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE, CATALYTIC SUBUNIT;GLCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3);{Myocardial infarction, susceptibility to}, 608446 (3)
CG2259-PB	606857	NP_001489	0	GCLC;GLCLC	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE, CATALYTIC SUBUNIT;GLCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3);{Myocardial infarction, susceptibility to}, 608446 (3)
CG10067-PA	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG12051-PA	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG18290-PA	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG18290-PB	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PA	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PB	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PC	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG4027-PD	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG5178-PA	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG7478-PA	102620	NP_001604	0	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG10067-PA	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG12051-PA	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG18290-PA	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG18290-PB	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG4027-PA	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG4027-PB	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG4027-PC	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG4027-PD	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG5178-PA	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG7478-PA	102560	NP_001605	0	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG4006-PA	164731	NP_001617	0	AKT2	ONCOGENE AKT2;PKB-BETA;PROTEIN KINASE B, BETA; PKBB	Diabetes mellitus, type II, 125853 (3)
CG4006-PB	164731	NP_001617	0	AKT2	ONCOGENE AKT2;PKB-BETA;PROTEIN KINASE B, BETA; PKBB	Diabetes mellitus, type II, 125853 (3)
CG4006-PC	164731	NP_001617	0	AKT2	ONCOGENE AKT2;PKB-BETA;PROTEIN KINASE B, BETA; PKBB	Diabetes mellitus, type II, 125853 (3)
CG3725-PA	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PB	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PC	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PD	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PE	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PF	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PG	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PH	108740	NP_001672	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG2165-PA	108733	NP_001674	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PB	108733	NP_001674	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PC	108733	NP_001674	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PD	108733	NP_001674	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG2165-PE	108733	NP_001674	0	ATP2B2;PMCA2	PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2	Deafness, autosomal recessive 12, modifier of, 601386 (3)
CG17369-PA	192132	NP_001683	0	ATP6B1;VPP3	1; ATP6V1B1;ATP6B1;VACUOLAR PROTON PUMP, SUBUNIT 3; VPP3	Renal tubular acidosis with deafness, 267300 (3)
CG17369-PB	192132	NP_001683	0	ATP6B1;VPP3	1; ATP6V1B1;ATP6B1;VACUOLAR PROTON PUMP, SUBUNIT 3; VPP3	Renal tubular acidosis with deafness, 267300 (3)
CG6871-PA	115500	NP_001743	0	CAT		Acatalasemia (3)
CG9314-PA	115500	NP_001743	0	CAT		Acatalasemia (3)
CG18572-PA	608307	NP_001866	0	CPS1	VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY	Carbamoylphosphate synthetase I deficiency, 237300 (3);{Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3);{Venoocclusive disease after bone marrow transplantation} (3)
CG18572-PB	608307	NP_001866	0	CPS1	VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY	Carbamoylphosphate synthetase I deficiency, 237300 (3);{Pulmonary hypertension, familial persistent, of the newborn}, 265380 (3);{Venoocclusive disease after bone marrow transplantation} (3)
CG12891-PA	600528	NP_001867	0	CPT1A	CPT I, LIVER;CPT IA;CPT1	CPT deficiency, hepatic, type IA, 255120 (3)
CG12891-PB	600528	NP_001867	0	CPT1A	CPT I, LIVER;CPT IA;CPT1	CPT deficiency, hepatic, type IA, 255120 (3)
CG11579-PA	116806	NP_001895	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PB	116806	NP_001895	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PC	116806	NP_001895	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PD	116806	NP_001895	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG11579-PE	116806	NP_001895	0	CTNNB1	CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB	Colorectal cancer (3);Hepatoblastoma (3);Hepatocellular carcinoma, 114550 (3);Ovarian cancer, 167000 (3);Pilomatricoma, 132600 (3)
CG6778-PA	600287	NP_002038	0	CMT2D;GARS;HMN5;SMAD1		Charcot-Marie-Tooth disease, type 2D, 601472 (3);Neuropathy, distal hereditary motor, type V, 600794 (3)
CG6778-PB	600287	NP_002038	0	CMT2D;GARS;HMN5;SMAD1		Charcot-Marie-Tooth disease, type 2D, 601472 (3);Neuropathy, distal hereditary motor, type V, 600794 (3)
CG6904-PA	138570	NP_002094	0	GYS1;GYS	GLYCOGEN SYNTHASE, MUSCLE;GYS	Glycogen storage disease 0, muscle, 611556 (3)
CG6904-PB	138570	NP_002094	0	GYS1;GYS	GLYCOGEN SYNTHASE, MUSCLE;GYS	Glycogen storage disease 0, muscle, 611556 (3)
CG6904-PC	138570	NP_002094	0	GYS1;GYS	GLYCOGEN SYNTHASE, MUSCLE;GYS	Glycogen storage disease 0, muscle, 611556 (3)
CG12101-PA	118190	NP_002147	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG12101-PB	118190	NP_002147	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG7235-PA	118190	NP_002147	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG7235-PB	118190	NP_002147	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG7235-PC	118190	NP_002147	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG1063-PA	147265	NP_002213	0	ITPR1;SCA15;SCA16	IP3R;IP3R1	Spinocerebellar ataxia 15, 606658 (3)
CG1063-PB	147265	NP_002213	0	ITPR1;SCA15;SCA16	IP3R;IP3R1	Spinocerebellar ataxia 15, 606658 (3)
CG11579-PA	173325	NP_002221	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PB	173325	NP_002221	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PC	173325	NP_002221	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PD	173325	NP_002221	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PE	173325	NP_002221	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG10693-PA	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PB	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PC	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PD	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PE	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PF	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PG	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PH	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PI	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PJ	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PK	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PL	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PM	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PN	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PO	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PP	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG10693-PQ	600150	NP_002238	0	KCNMA1;SLO	M, ALPHA MEMBER 1; KCNMA1;SLO-ALPHA;SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO	Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
CG7123-PA	150325	NP_002283	0	LAMB2;LAMS	LAMININ S; LAMS	Nephrosis, congenital, with or without ocular abnormalities, 609049 (3);Pierson syndrome, 609049 (3)
CG7123-PB	150325	NP_002283	0	LAMB2;LAMS	LAMININ S; LAMS	Nephrosis, congenital, with or without ocular abnormalities, 609049 (3);Pierson syndrome, 609049 (3)
CG5912-PA	603506	NP_002326	0	BMND1;EVR4;LR3;LRP5;LRP7;OPPG;OPTA1;VBCH2	LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 7; LRP7;LR3	Exudative vitreoretinopathy 4, 601813 (3);Hyperostosis, endosteal, 144750 (3);Osteopetrosis, AD type I, 607634 (3);Osteoporosis-pseudoglioma syndrome, 259770 (3);Osteosclerosis, 144750 (3);van Buchem disease, type 2, 607636 (3);[Bone mineral density variability 1], 601884 (3);{Osteoporosis}, 166710 (3)
CG8909-PB	603506	NP_002326	0	BMND1;EVR4;LR3;LRP5;LRP7;OPPG;OPTA1;VBCH2	LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 7; LRP7;LR3	Exudative vitreoretinopathy 4, 601813 (3);Hyperostosis, endosteal, 144750 (3);Osteopetrosis, AD type I, 607634 (3);Osteoporosis-pseudoglioma syndrome, 259770 (3);Osteosclerosis, 144750 (3);van Buchem disease, type 2, 607636 (3);[Bone mineral density variability 1], 601884 (3);{Osteoporosis}, 166710 (3)
CG12139-PB	603507	NP_002327	0	ADCAD2;LRP6		{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
CG5912-PA	603507	NP_002327	0	ADCAD2;LRP6		{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
CG8909-PB	603507	NP_002327	0	ADCAD2;LRP6		{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
CG15792-PA	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG15792-PB	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG15792-PC	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG15792-PD	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PA	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PB	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PC	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PD	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PE	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PF	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PG	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PH	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PI	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PJ	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PK	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PL	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17927-PM	160720	NP_002461	0	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG15792-PA	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG15792-PB	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG15792-PC	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG15792-PD	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PA	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PB	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PC	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PD	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PE	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PF	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PG	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PH	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PI	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PJ	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PK	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PL	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG17927-PM	160710	NP_002462	0	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG15792-PA	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG15792-PB	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG15792-PC	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG15792-PD	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PA	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PB	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PC	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PD	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PE	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PF	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PG	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PH	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PI	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PJ	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PK	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PL	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG17927-PM	160741	NP_002463	0	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG15792-PA	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG15792-PB	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG15792-PC	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG15792-PD	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PA	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PB	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PC	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PD	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PE	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PF	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PG	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PH	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PI	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PJ	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PK	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PL	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG17927-PM	160775	NP_002464	0	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG15792-PA	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PB	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PC	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PD	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PA	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PB	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PC	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PD	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PE	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PF	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PG	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PH	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PI	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PJ	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PK	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PL	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PM	160745	NP_002465	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7766-PA	311870	NP_002628	0	PHKA1		Muscle glycogenosis, 300559 (3)
CG7766-PB	311870	NP_002628	0	PHKA1		Muscle glycogenosis, 300559 (3)
CG8987-PA	174763	NP_002684	0	PEO;POLG;POLG1;POLGA;SANDO;SCAE	POLG, CATALYTIC SUBUNIT;POLG-ALPHA; POLGA;POLYMERASE, DNA, GAMMA-1; POLG1	Alpers syndrome, 203700 (3);MNGIE without leukoencephalopathy, 603041;Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadiam, 157640 (3);Progressive external ophthalmoplegia, autosomal recessive, 258450 (3);Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, 607459 (3);Spinocerebellar ataxia with epilepsy, 607459 (3)
CG17291-PA	603113	NP_002707	0	PPP2R1B	PP2AA-BETA	Lung cancer, 211980 (3)
CG17291-PB	603113	NP_002707	0	PPP2R1B	PP2AA-BETA	Lung cancer, 211980 (3)
CG6518-PA	176960	NP_002728	0	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG6622-PA	176960	NP_002728	0	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG6622-PB	176960	NP_002728	0	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG6518-PA	176980	NP_002730	0	PKCC;PKCG;PRKCG;SCA14	PKCC; PKCG	Spinocerebellar ataxia 14, 605361 (3)
CG6622-PA	176980	NP_002730	0	PKCC;PKCG;PRKCG;SCA14	PKCC; PKCG	Spinocerebellar ataxia 14, 605361 (3)
CG6622-PB	176980	NP_002730	0	PKCC;PKCG;PRKCG;SCA14	PKCC; PKCG	Spinocerebellar ataxia 14, 605361 (3)
CG12703-PA	170995	NP_002849	0	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG7470-PA	138250	NP_002851	0	PYCS;GSAS	1-@PYRROLINE-5-CARBOXYLATE SYNTHETASE; PYCS;GLUTAMATE GAMMA-SEMIALDEHYDE SYNTHETASE; GSAS;P5CS	Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities, 612652 (3)
CG7254-PA	232700	NP_002854	0	PYGL	GSD VI; GSD6;HERS DISEASE;PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER	Glycogen storage disease VI (3)
CG7254-PB	232700	NP_002854	0	PYGL	GSD VI; GSD6;HERS DISEASE;PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER	Glycogen storage disease VI (3)
CG9209-PA	139150	NP_002881	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG9209-PB	139150	NP_002881	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG9209-PC	139150	NP_002881	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG9209-PD	139150	NP_002881	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG9071-PA	603415	NP_002968	0	NENA;PN1;SCN9A	NAV1.7;NEUROENDOCRINE SODIUM CHANNEL; NENA;PERIPHERAL SODIUM CHANNEL 1; PN1	Erythermalgia, primary, 133020 (3);Insensitivity to pain, channelopathy-associated, 243000 (3);Paroxysmal extreme pain disorder, 167400 (3)
CG9071-PB	603415	NP_002968	0	NENA;PN1;SCN9A	NAV1.7;NEUROENDOCRINE SODIUM CHANNEL; NENA;PERIPHERAL SODIUM CHANNEL 1; PN1	Erythermalgia, primary, 133020 (3);Insensitivity to pain, channelopathy-associated, 243000 (3);Paroxysmal extreme pain disorder, 167400 (3)
CG9907-PA	603415	NP_002968	0	NENA;PN1;SCN9A	NAV1.7;NEUROENDOCRINE SODIUM CHANNEL; NENA;PERIPHERAL SODIUM CHANNEL 1; PN1	Erythermalgia, primary, 133020 (3);Insensitivity to pain, channelopathy-associated, 243000 (3);Paroxysmal extreme pain disorder, 167400 (3)
CG9907-PB	603415	NP_002968	0	NENA;PN1;SCN9A	NAV1.7;NEUROENDOCRINE SODIUM CHANNEL; NENA;PERIPHERAL SODIUM CHANNEL 1; PN1	Erythermalgia, primary, 133020 (3);Insensitivity to pain, channelopathy-associated, 243000 (3);Paroxysmal extreme pain disorder, 167400 (3)
CG9907-PC	603415	NP_002968	0	NENA;PN1;SCN9A	NAV1.7;NEUROENDOCRINE SODIUM CHANNEL; NENA;PERIPHERAL SODIUM CHANNEL 1; PN1	Erythermalgia, primary, 133020 (3);Insensitivity to pain, channelopathy-associated, 243000 (3);Paroxysmal extreme pain disorder, 167400 (3)
CG17320-PA	184755	NP_002970	0	SCP2	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SCPx-DEFICIENT,;STEROL CARRIER PROTEIN X; SCPX	Leukoencephalopathy with dystonia and motor neuropathy (3)
CG2658-PA	602783	NP_003110	0	CAR;CMAR;PGN;SPG7	CELL ADHESION REGULATOR; CAR;CELL MATRIX ADHESION REGULATOR; CMAR;PARAPLEGIN; PGN	Spastic paraplegia-7, 607259 (3)
CG1977-PA	182860	NP_003117	0	EL2;HPP;HS3;SPH3;SPTA1		Elliptocytosis-2, 130600 (3);Pyropoikilocytosis, 266140 (3);Spherocytosis, type 3, 270970 (3)
CG15811-PA	602926	NP_003156	0	EIEE4;STXBP1;UNC18	MUNC18-1;UNC18, C. ELEGANS, HOMOLOG OF, 1	Epileptic encephalopathy, early infantile, 4, 612164 (2)
CG6146-PA	126420	NP_003277	0	TOP1		DNA topoisomerase I, camptothecin-resistant (3)
CG6146-PB	126420	NP_003277	0	TOP1		DNA topoisomerase I, camptothecin-resistant (3)
CG6146-PC	126420	NP_003277	0	TOP1		DNA topoisomerase I, camptothecin-resistant (3)
CG32019-PA	188840	NP_003310	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PC	188840	NP_003310	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PD	188840	NP_003310	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PE	188840	NP_003310	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG1782-PA	314370	NP_003325	0	A1ST;AMCX1;GXP1;SMAX2;UBE1	BN75 TEMPERATURE SENSITIVITY COMPLEMENTING; GXP1	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
CG3736-PA	603615	NP_003570	0	HR54;HRAD54;RAD54L	HR54;HRAD54	Breast cancer, invasive intraductal (3);Colon adenocarcinoma (3);Lymphoma, non-Hodgkin (3)
CG8711-PA	300304	NP_003579	0	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG10253-PA	603051	NP_003650	0	ADHAPS;AGPS	ALKYL-DHAP SYNTHASE;ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE; ADHAPS	Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)
CG11427-PA	603401	NP_003655	0	ADTB3A;AP3B1;HPS2	ADAPTIN, BETA-3A; ADTB3A;HPS2 GENE; HPS2;PEARL, MOUSE, HOMOLOG OF; PE	Hermansky-Pudlak syndrome 2, 608233 (3)
CG4561-PA	603623	NP_003671	0	CMTDIC;TYRRS;YARS;YRS;YTS	TYRRS;YRS;YTS	Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
CG6703-PB	300172	NP_003679	0	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG2139-PA	603667	NP_003696	0		ARALAR;ASPARTATE-GLUTAMATE CARRIER ISOFORM 1, MITOCHONDRIAL; AGC1;SLC25A12	
CG2139-PB	603667	NP_003696	0		ARALAR;ASPARTATE-GLUTAMATE CARRIER ISOFORM 1, MITOCHONDRIAL; AGC1;SLC25A12	
CG2139-PC	603667	NP_003696	0		ARALAR;ASPARTATE-GLUTAMATE CARRIER ISOFORM 1, MITOCHONDRIAL; AGC1;SLC25A12	
CG2139-PD	603667	NP_003696	0		ARALAR;ASPARTATE-GLUTAMATE CARRIER ISOFORM 1, MITOCHONDRIAL; AGC1;SLC25A12	
CG2411-PA	603673	NP_003729	0	PTCH2		Basal cell carcinoma, somatic, 605462 (3);Medulloblastoma, 155255 (3)
CG10181-PA	603201	NP_003733	0	ABCB11;BRIC2;BSEP;PFIC2;SPGP	BILE SALT EXPORT PUMP; BSEP;SISTER OF P-GLYCOPROTEIN; SPGP	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3);Cholestasis, progressive familial intrahepatic 2, 601847 (3)
CG10226-PA	603201	NP_003733	0	ABCB11;BRIC2;BSEP;PFIC2;SPGP	BILE SALT EXPORT PUMP; BSEP;SISTER OF P-GLYCOPROTEIN; SPGP	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3);Cholestasis, progressive familial intrahepatic 2, 601847 (3)
CG8523-PA	603201	NP_003733	0	ABCB11;BRIC2;BSEP;PFIC2;SPGP	BILE SALT EXPORT PUMP; BSEP;SISTER OF P-GLYCOPROTEIN; SPGP	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3);Cholestasis, progressive familial intrahepatic 2, 601847 (3)
CG7145-PA	606811	NP_003739	0	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG7145-PB	606811	NP_003739	0	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG7145-PD	606811	NP_003739	0	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG4675-PA	603345	NP_003750	0	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG4675-PB	603345	NP_003750	0	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG15148-PB	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG15804-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG15804-PB	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG17150-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG1842-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG3339-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG3339-PB	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG3723-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG5526-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG7092-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG7507-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG9492-PA	603339	NP_003768	0	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG18214-PA	604605	NP_003938	0		SERINE/THREONINE PROTEIN KINASE WITH DBL HOMOLOGY AND PLECKSTRIN HOMOLOGY	
CG18214-PC	604605	NP_003938	0		SERINE/THREONINE PROTEIN KINASE WITH DBL HOMOLOGY AND PLECKSTRIN HOMOLOGY	
CG31183-PA	108961	NP_003986	0	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG3216-PB	108961	NP_003986	0	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG34157-PA	300377	NP_003997	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_003997	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_003997	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_003997	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_003997	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_003997	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_003997	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_003998	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_003998	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_003998	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_003998	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_003998	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_003998	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_003998	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004000	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004000	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004000	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004000	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004000	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004000	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004000	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004001	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004001	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004001	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004001	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004001	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004001	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004001	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004002	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004002	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004002	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004002	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004002	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004002	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004002	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004003	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004003	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004003	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004003	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004003	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004003	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004003	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004004	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004004	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004004	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004004	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004004	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004004	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004004	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004005	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004005	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004005	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004005	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004005	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004005	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004005	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004011	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004011	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004011	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004011	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004011	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004011	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004012	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004012	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004012	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004012	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004012	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004012	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004012	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004013	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004013	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004013	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004013	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004013	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004013	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004013	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004014	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004014	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004014	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004014	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004014	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004014	0	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG11089-PA	601731	NP_004035	0	AICAR;ATIC;PURH	AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE;AICARFT/IMPCHASE;CYCLOHYDROLASE; ATIC;PURH	AICA-ribosiduria due to ATIC deficiency, 608688 (3)
CG17246-PA	600857	NP_004159	0	SDH2;SDHA;SDHF	SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2	Leigh syndrome, 256000 (3);Mitochondrial respiratory chain complex II deficiency, 252011 (3)
CG17246-PB	600857	NP_004159	0	SDH2;SDHA;SDHF	SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2	Leigh syndrome, 256000 (3);Mitochondrial respiratory chain complex II deficiency, 252011 (3)
CG17246-PC	600857	NP_004159	0	SDH2;SDHA;SDHF	SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2	Leigh syndrome, 256000 (3);Mitochondrial respiratory chain complex II deficiency, 252011 (3)
CG5718-PA	600857	NP_004159	0	SDH2;SDHA;SDHF	SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2	Leigh syndrome, 256000 (3);Mitochondrial respiratory chain complex II deficiency, 252011 (3)
CG9088-PA	314690	NP_004178	0	DXS1272E;JARID1C;KDM5C;MRXSJ;SMCX;XE169	DXS1272E;JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C;SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX;XE169	Mental retardation, X-linked, syndromic, JARID1C-related, 300534 (3)
CG9088-PB	314690	NP_004178	0	DXS1272E;JARID1C;KDM5C;MRXSJ;SMCX;XE169	DXS1272E;JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C;SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX;XE169	Mental retardation, X-linked, syndromic, JARID1C-related, 300534 (3)
CG7955-PA	300135	NP_004290	0	ABC7;ABCB7;ASAT	ABC TRANSPORTER 7;ATP-BINDING CASSETTE 7; ABC7;ATP-BINDING CASSETTE TRANSPORTER 7	Anemia, sideroblastic, with ataxia, 301310 (3)
CG7955-PB	300135	NP_004290	0	ABC7;ABCB7;ASAT	ABC TRANSPORTER 7;ATP-BINDING CASSETTE 7; ABC7;ATP-BINDING CASSETTE TRANSPORTER 7	Anemia, sideroblastic, with ataxia, 301310 (3)
CG7955-PC	300135	NP_004290	0	ABC7;ABCB7;ASAT	ABC TRANSPORTER 7;ATP-BINDING CASSETTE 7; ABC7;ATP-BINDING CASSETTE TRANSPORTER 7	Anemia, sideroblastic, with ataxia, 301310 (3)
CG3725-PA	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PB	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PC	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PD	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PE	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PF	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PG	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PH	108730	NP_004311	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG31116-PC	600570	NP_004357	0	CLCN2;ECA3;EGI3;EGMA	CLC2	Epilepsy with grand mal seizures on awakening, 607628 (3);Epilepsy, childhood absence, 607682 (3);Epilepsy, juvenile absence, 607631 (3);Epilepsy, juvenile myoclonic, 606904 (3)
CG15319-PB	600140	NP_004371	0	CBP;CREBBP;RSTS	CBP	Rubenstein-Taybi syndrome, 180849 (3)
CG1511-PA	600997	NP_004433	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PB	600997	NP_004433	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PC	600997	NP_004433	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PD	600997	NP_004433	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PE	600997	NP_004433	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG12140-PA	231675	NP_004444	0	ETFDH;MADD	ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE; ETFQO	Glutaricaciduria, type IIC, 231680 (3)
CG8732-PA	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PB	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PC	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PE	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PF	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PG	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PH	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PI	300157	NP_004449	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG12139-PB	600073	NP_004516	0	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG1372-PA	600073	NP_004516	0	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG1372-PB	600073	NP_004516	0	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG33087-PC	600073	NP_004516	0	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG8909-PB	600073	NP_004516	0	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG1970-PA	602985	NP_004541	0	NDUFS2	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 49-KD SUBUNIT	Mitochondrial complex I deficiency, 252010 (3)
CG6235-PA	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PB	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PC	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PD	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PE	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PF	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PG	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PH	604325	NP_004567	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG17596-PA	300075	NP_004577	0	MRX19;RPS6KA3;RSK2	MAPKAP KINASE 1B;MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1B; MAPKAPK1B;RIBOSOMAL S6 KINASE 2; RSK2	Coffin-Lowry syndrome, 303600 (3);Mental retardation, X-linked nonspecific, type 19 (3)
CG17603-PA	313650	NP_004597	0	BA2R;CCG1;DYT3;TAF1;TAF2A	250-KD; TAF1;BA2R;CELL CYCLE BLOCK, G1-TO-S; CCGS;CELL CYCLE GENE 1;CELL CYCLE, G1 PHASE DEFECT; CCG1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250	Dystonia-Parkinsonism, X-linked, 314250 (3)
CG17603-PB	313650	NP_004597	0	BA2R;CCG1;DYT3;TAF1;TAF2A	250-KD; TAF1;BA2R;CELL CYCLE BLOCK, G1-TO-S; CCGS;CELL CYCLE GENE 1;CELL CYCLE, G1 PHASE DEFECT; CCG1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250	Dystonia-Parkinsonism, X-linked, 314250 (3)
CG17603-PC	313650	NP_004597	0	BA2R;CCG1;DYT3;TAF1;TAF2A	250-KD; TAF1;BA2R;CELL CYCLE BLOCK, G1-TO-S; CCGS;CELL CYCLE GENE 1;CELL CYCLE, G1 PHASE DEFECT; CCG1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250	Dystonia-Parkinsonism, X-linked, 314250 (3)
CG1945-PA	400005	NP_004645	0	USP9Y;DFFRY	DROSOPHILA FAT FACETS-RELATED, Y-LINKED; DFFRY	Azoospermia, 415000 (3)
CG1945-PC	400005	NP_004645	0	USP9Y;DFFRY	DROSOPHILA FAT FACETS-RELATED, Y-LINKED; DFFRY	Azoospermia, 415000 (3)
CG11734-PB	605837	NP_004658	0	HERC2;SHEP1		[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3);[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
CG8363-PA	603005	NP_004661	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PB	603005	NP_004661	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PC	603005	NP_004661	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PD	603005	NP_004661	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PE	603005	NP_004661	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG8363-PF	603005	NP_004661	0	ATPSK2;PAPSS2	ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;ATP SULFURYLASE/APS KINASE 2;PAPS SYNTHASE 2;PAPS SYNTHETASE 2;PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;SK2	SEMD, Pakistani type, 612847 (3)
CG4376-PA	604638	NP_004915	0	ACTN4;FSGS;FSGS1	ACTININ-4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
CG4376-PB	604638	NP_004915	0	ACTN4;FSGS;FSGS1	ACTININ-4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
CG4376-PC	604638	NP_004915	0	ACTN4;FSGS;FSGS1	ACTININ-4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
CG18102-PA	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PB	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PC	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PD	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PE	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PF	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PG	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PH	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG18102-PI	602378	NP_004936	0	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG7765-PA	602821	NP_004975	0	KIF5A;NKHC;SPG10	KINESIN, HEAVY CHAIN, NEURON-SPECIFIC; NKHC	Spastic paraplegia 10, 604187 (3)
CG5695-PA	600970	NP_004990	0	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG5695-PB	600970	NP_004990	0	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG5695-PC	600970	NP_004990	0	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG5695-PD	600970	NP_004990	0	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG5695-PE	600970	NP_004990	0	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG5695-PF	600970	NP_004990	0	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG2286-PA	157655	NP_004997	0	NDUFS1	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT	Mitochondrial complex I deficiency, 252010 (3)
CG2286-PB	157655	NP_004997	0	NDUFS1	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT	Mitochondrial complex I deficiency, 252010 (3)
CG5594-PA	604878	NP_005126	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PB	604878	NP_005126	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PC	604878	NP_005126	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PD	604878	NP_005126	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG4032-PA	189980	NP_005148	0	ABL1	ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL;TRANSFORMATION GENE: ONCOGENE ABL	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
CG10067-PA	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG12051-PA	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG18290-PA	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG18290-PB	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG4027-PA	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG4027-PB	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG4027-PC	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG4027-PD	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG5178-PA	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG7478-PA	102540	NP_005150	0	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG1522-PA	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PB	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PC	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PD	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PE	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PF	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PG	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PH	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PI	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG1522-PJ	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG4894-PA	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG4894-PB	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG4894-PC	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG4894-PD	300110	NP_005174	0	AIED;CACNA1F;CORDX3;CSNB2;CSNB2A;OA2		Aland Island eye disease, 300600 (3);Cone-rod dystrophy, X-linked, 3, 300476 (3);Night blindness, congenital stationary, X-linked, type 2A, 300071 (3)
CG5320-PA	138130	NP_005262	0	GLUD1	GDH;GLUD	Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
CG5320-PB	138130	NP_005262	0	GLUD1	GDH;GLUD	Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
CG5320-PC	138130	NP_005262	0	GLUD1	GDH;GLUD	Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
CG7438-PA	601478	NP_005370	0	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG7438-PB	601478	NP_005370	0	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9155-PA	601478	NP_005370	0	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9155-PB	601478	NP_005370	0	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9155-PC	601478	NP_005370	0	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9155-PD	601478	NP_005370	0	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9802-PA	606062	NP_005436	0	BAM;CDLS3;CSPG6;HCAP;SMC3	BAMACAN; BAM;CHONDROITIN SULFATE PROTEOGLYCAN 6; CSPG6;HUMAN CHROMOSOME-ASSOCIATED POLYPEPTIDE; HCAP	Cornelia de Lange syndrome 3, 610759 (3)
CG9802-PB	606062	NP_005436	0	BAM;CDLS3;CSPG6;HCAP;SMC3	BAMACAN; BAM;CHONDROITIN SULFATE PROTEOGLYCAN 6; CSPG6;HUMAN CHROMOSOME-ASSOCIATED POLYPEPTIDE; HCAP	Cornelia de Lange syndrome 3, 610759 (3)
CG8585-PB	605206	NP_005468	0	HCN4	4; HCN4	Sick sinus syndrome 2, 163800 (3)
CG8585-PC	605206	NP_005468	0	HCN4	4; HCN4	Sick sinus syndrome 2, 163800 (3)
CG8585-PD	605206	NP_005468	0	HCN4	4; HCN4	Sick sinus syndrome 2, 163800 (3)
CG8585-PE	605206	NP_005468	0	HCN4	4; HCN4	Sick sinus syndrome 2, 163800 (3)
CG33950-PA	142461	NP_005520	0	HSPG2;PLC;SJA;SJS;SJS1	PERLECAN; PLC	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3);Schwartz-Jampel syndrome, type 1, 255800 (3)
CG33950-PB	142461	NP_005520	0	HSPG2;PLC;SJA;SJS;SJS1	PERLECAN; PLC	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3);Schwartz-Jampel syndrome, type 1, 255800 (3)
CG33950-PC	142461	NP_005520	0	HSPG2;PLC;SJA;SJS;SJS1	PERLECAN; PLC	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3);Schwartz-Jampel syndrome, type 1, 255800 (3)
CG33950-PD	142461	NP_005520	0	HSPG2;PLC;SJA;SJS;SJS1	PERLECAN; PLC	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3);Schwartz-Jampel syndrome, type 1, 255800 (3)
CG33950-PE	142461	NP_005520	0	HSPG2;PLC;SJA;SJS;SJS1	PERLECAN; PLC	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3);Schwartz-Jampel syndrome, type 1, 255800 (3)
CG33950-PF	142461	NP_005520	0	HSPG2;PLC;SJA;SJS;SJS1	PERLECAN; PLC	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3);Schwartz-Jampel syndrome, type 1, 255800 (3)
CG17896-PA	603178	NP_005580	0	ALDH6A1;MMSDH	ALDEHYDE DEHYDROGENASE 6 FAMILY, MEMBER A1; ALDH6A1	Methylmalonate semialdehyde dehydrogenase deficiency (3)
CG17896-PB	603178	NP_005580	0	ALDH6A1;MMSDH	ALDEHYDE DEHYDROGENASE 6 FAMILY, MEMBER A1; ALDH6A1	Methylmalonate semialdehyde dehydrogenase deficiency (3)
CG17034-PA	602397	NP_005594	0	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG17034-PB	602397	NP_005594	0	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG17034-PC	602397	NP_005594	0	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG17034-PD	602397	NP_005594	0	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG7254-PA	608455	NP_005600	0	PYGM	MYOPHOSPHORYLASE	McArdle disease, 232600 (3)
CG7254-PB	608455	NP_005600	0	PYGM	MYOPHOSPHORYLASE	McArdle disease, 232600 (3)
CG7793-PA	182530	NP_005624	0	GF1;GINGF;HGF;NS4;SOS1	SOS1 GUANINE NUCLEOTIDE EXCHANGE FACTOR	Fibromatosis, gingival, 135300 (3);Noonan syndrome 4, 610733 (3);Noonan-like/multiple giant cell lesion syndrome, 163955 (3)
CG3210-PA	603850	NP_005681	0	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG7144-PA	605113	NP_005754	0	AASS		Hyperlysinemia, 238700 (3);Saccharopinuria, 268700 (1)
CG4039-PA	601806	NP_005906	0	MCM6		Lactase persistance/nonpersistance, 223100 (3)
CG4067-PA	172460	NP_005947	0	MTHFC;MTHFD	C1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC;C1-THF-SYNTHASE;CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE;SYNTHETASE, NADP(+)-DEPENDENT	{Abruptio placentae, susceptibility to} (3);{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3)
CG4067-PB	172460	NP_005947	0	MTHFC;MTHFD	C1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC;C1-THF-SYNTHASE;CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE;SYNTHETASE, NADP(+)-DEPENDENT	{Abruptio placentae, susceptibility to} (3);{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3)
CG4067-PC	172460	NP_005947	0	MTHFC;MTHFD	C1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC;C1-THF-SYNTHASE;CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE;SYNTHETASE, NADP(+)-DEPENDENT	{Abruptio placentae, susceptibility to} (3);{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3)
CG4067-PD	172460	NP_005947	0	MTHFC;MTHFD	C1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC;C1-THF-SYNTHASE;CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE;SYNTHETASE, NADP(+)-DEPENDENT	{Abruptio placentae, susceptibility to} (3);{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3)
CG1913-PA	602529	NP_006000	0	LIS3;TUBA1A;TUBA3	B-ALPHA-1;TUBA3;TUBULIN, ALPHA, BRAIN-SPECIFIC	Lissencephaly 3, 611603 (3)
CG2512-PA	602529	NP_006000	0	LIS3;TUBA1A;TUBA3	B-ALPHA-1;TUBA3;TUBULIN, ALPHA, BRAIN-SPECIFIC	Lissencephaly 3, 611603 (3)
CG2512-PB	602529	NP_006000	0	LIS3;TUBA1A;TUBA3	B-ALPHA-1;TUBA3;TUBULIN, ALPHA, BRAIN-SPECIFIC	Lissencephaly 3, 611603 (3)
CG8308-PA	602529	NP_006000	0	LIS3;TUBA1A;TUBA3	B-ALPHA-1;TUBA3;TUBULIN, ALPHA, BRAIN-SPECIFIC	Lissencephaly 3, 611603 (3)
CG9476-PA	602529	NP_006000	0	LIS3;TUBA1A;TUBA3	B-ALPHA-1;TUBA3;TUBULIN, ALPHA, BRAIN-SPECIFIC	Lissencephaly 3, 611603 (3)
CG1954-PA	605437	NP_006246	0	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG6057-PA	300040	NP_006297	0	CDLS2;DXS423E;SMC1	DXS423E;KIAA0178;SMC1;SMC1-ALPHA;STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1; SMC1L1	Cornelia de Lange syndrome 2, 300590 (3)
CG1250-PA	610512	NP_006354	0			
CG1250-PB	610512	NP_006354	0			
CG1250-PA	610511	NP_006355	0	CLSD;SEC23A		Craniolenticulosutural dysplasia, 607812 (3)
CG1250-PB	610511	NP_006355	0	CLSD;SEC23A		Craniolenticulosutural dysplasia, 607812 (3)
CG7578-PA	605371	NP_006411	0	ARFGEF2;BIG2;PVNH2	BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 2; BIG2	Periventricular heterotopia with microcephaly, 608097 (3)
CG7578-PB	605371	NP_006411	0	ARFGEF2;BIG2;PVNH2	BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 2; BIG2	Periventricular heterotopia with microcephaly, 608097 (3)
CG8877-PA	607300	NP_006436	0	PRPC8;PRPF8;RP13	PRP8;PRPC8;U5 snRNP-SPECIFIC PROTEIN, 220-KD	Retinitis pigmentosa-13, 600059 (3)
CG2212-PA	603197	NP_006693	0	NTE;NTEMND;PNPLA6;SPG39	NEUROPATHY TARGET ESTERASE; NTE;NEUROTOXIC ESTERASE	Spastic paraplegia 39, 612020 (3)
CG9071-PA	182389	NP_008851	0	FEB3;GEFSP2;SCN1A;SMEI	NAV1.1;SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1	Antiepileptic drugs, response to (3);Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3);Epilepsy, intractable childhood, with generalized tonic-clonic seizures, 607208 (3);Epilepsy, severe myoclonic, of infancy, 607208 (3);Febrile convulsions, familial, 3, 604403 (3);Migraine, familial hemiplegic, 3, 609634 (3)
CG9071-PB	182389	NP_008851	0	FEB3;GEFSP2;SCN1A;SMEI	NAV1.1;SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1	Antiepileptic drugs, response to (3);Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3);Epilepsy, intractable childhood, with generalized tonic-clonic seizures, 607208 (3);Epilepsy, severe myoclonic, of infancy, 607208 (3);Febrile convulsions, familial, 3, 604403 (3);Migraine, familial hemiplegic, 3, 609634 (3)
CG9907-PA	182389	NP_008851	0	FEB3;GEFSP2;SCN1A;SMEI	NAV1.1;SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1	Antiepileptic drugs, response to (3);Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3);Epilepsy, intractable childhood, with generalized tonic-clonic seizures, 607208 (3);Epilepsy, severe myoclonic, of infancy, 607208 (3);Febrile convulsions, familial, 3, 604403 (3);Migraine, familial hemiplegic, 3, 609634 (3)
CG9907-PB	182389	NP_008851	0	FEB3;GEFSP2;SCN1A;SMEI	NAV1.1;SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1	Antiepileptic drugs, response to (3);Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3);Epilepsy, intractable childhood, with generalized tonic-clonic seizures, 607208 (3);Epilepsy, severe myoclonic, of infancy, 607208 (3);Febrile convulsions, familial, 3, 604403 (3);Migraine, familial hemiplegic, 3, 609634 (3)
CG9907-PC	182389	NP_008851	0	FEB3;GEFSP2;SCN1A;SMEI	NAV1.1;SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1	Antiepileptic drugs, response to (3);Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3);Epilepsy, intractable childhood, with generalized tonic-clonic seizures, 607208 (3);Epilepsy, severe myoclonic, of infancy, 607208 (3);Febrile convulsions, familial, 3, 604403 (3);Migraine, familial hemiplegic, 3, 609634 (3)
CG5870-PA	604985	NP_008877	0	SPTBN2;SCA5	GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41;SPECTRIN, BETA-III	Spinocerebellar ataxia-5, 600224 (3)
CG11423-PA	161015	NP_009034	0	NDUFV1;UQOR1	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT;UQOR1	Alexander disease, 203450 (3);Leigh syndrome, 256000 (3);Mitochondrial complex I deficiency, 252010 (3)
CG9140-PA	161015	NP_009034	0	NDUFV1;UQOR1	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT;UQOR1	Alexander disease, 203450 (3);Leigh syndrome, 256000 (3);Mitochondrial complex I deficiency, 252010 (3)
CG2331-PA	601023	NP_009057	0	VCP;IBMPFD	CDC48, YEAST, HOMOLOG OF;p97	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, 167320 (3)
CG4032-PA	189980	NP_009297	0	ABL1	ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL;TRANSFORMATION GENE: ONCOGENE ABL	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
CG8442-PA	305915	NP_015564	0	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG3210-PA	603850	NP_036192	0	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG3210-PA	603850	NP_036193	0	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG8439-PA	610150	NP_036205	0	CCT5;CCTE;KIAA0098	CCT-EPSILON; CCTE;CHAPERONIN CONTAINING TCP1, SUBUNIT 5;KIAA0098	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CG8439-PB	610150	NP_036205	0	CCT5;CCTE;KIAA0098	CCT-EPSILON; CCTE;CHAPERONIN CONTAINING TCP1, SUBUNIT 5;KIAA0098	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CG12602-PA	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG1709-PA	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG1709-PB	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG1709-PC	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG1709-PD	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG1709-PE	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG1709-PF	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG1709-PG	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG18617-PA	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG18617-PB	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG7678-PA	611716	NP_036595	0	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG12311-PA	607439	NP_037514	0	POMT2		Walker-Warburg syndrome, 236670 (3)
CG5722-PA	608010	NP_037521	0	NPC1L1		[Ezetimibe, nonresponse to] (3)
CG3131-PA	606759	NP_054799	0	DUOX2;THOX2	THYROID OXIDASE 2; THOX2	Hypothyroidism, congenital, due to DUOX2 deficiency, 607200 (3)
CG9907-PA	600702	NP_055006	0		NAV1.6	
CG9907-PB	600702	NP_055006	0		NAV1.6	
CG9907-PC	600702	NP_055006	0		NAV1.6	
CG2139-PA	603859	NP_055066	0	CTLN2;SLC25A13	CITRIN	Citrullinemia, adult-onset type II, 603471 (3);Citrullinemia, type II, neonatal-onset, 605814 (3)
CG2139-PB	603859	NP_055066	0	CTLN2;SLC25A13	CITRIN	Citrullinemia, adult-onset type II, 603471 (3);Citrullinemia, type II, neonatal-onset, 605814 (3)
CG2139-PC	603859	NP_055066	0	CTLN2;SLC25A13	CITRIN	Citrullinemia, adult-onset type II, 603471 (3);Citrullinemia, type II, neonatal-onset, 605814 (3)
CG2139-PD	603859	NP_055066	0	CTLN2;SLC25A13	CITRIN	Citrullinemia, adult-onset type II, 603471 (3);Citrullinemia, type II, neonatal-onset, 605814 (3)
CG32451-PA	604384	NP_055197	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PB	604384	NP_055197	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG32451-PC	604384	NP_055197	0	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG12272-PA	610657	NP_055661	0	KIAA0196;SPG8	STRUMPELLIN	Spastic paraplegia-8, 603563 (3)
CG3869-PA	608507	NP_055689	0	CMT2A2;KIAA0214;MFN2	KIAA0214	Charcot-Marie-Tooth disease, type 2A2, 609260 (3);Hereditary motor and sensory neuropathy VI, 601152 (3)
CG3869-PB	608507	NP_055689	0	CMT2A2;KIAA0214;MFN2	KIAA0214	Charcot-Marie-Tooth disease, type 2A2, 609260 (3);Hereditary motor and sensory neuropathy VI, 601152 (3)
CG3869-PC	608507	NP_055689	0	CMT2A2;KIAA0214;MFN2	KIAA0214	Charcot-Marie-Tooth disease, type 2A2, 609260 (3);Hereditary motor and sensory neuropathy VI, 601152 (3)
CG8566-PD	605995	NP_055889	0	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG2093-PA	605978	NP_056001	0	CHAC;VPS13A	CHAC GENE; CHAC;CHOREIN;KIAA0986	Choreoacanthocytosis, 200150 (3)
CG17704-PE	608667	NP_056199	0	NIPBL;CDLS1	DELANGIN	Cornelia de Lange syndrome 1, 122470 (3)
CG17704-PF	608667	NP_056199	0	NIPBL;CDLS1	DELANGIN	Cornelia de Lange syndrome 1, 122470 (3)
CG8479-PA	605290	NP_056375	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_056375	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG9115-PA	603557	NP_057240	0	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG2174-PA	602666	NP_057323	0	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG2174-PB	602666	NP_057323	0	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG10231-PA	604961	NP_058649	0	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG8279-PA	604961	NP_058649	0	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG5125-PB	606808	NP_059129	0	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG1511-PA	600997	NP_059145	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PB	600997	NP_059145	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PC	600997	NP_059145	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PD	600997	NP_059145	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG1511-PE	600997	NP_059145	0	CAPB;DRT;EPHB2;EPHT3;ERK;PCBC	DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;ELK-RELATED TYROSINE KINASE; ERK;EPH TYROSINE KINASE 3; EPHT3;HEK5	Prostate cancer, progression and metastasis of, 603688 (3)
CG15792-PA	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG15792-PB	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG15792-PC	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG15792-PD	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PA	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PB	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PC	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PD	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PE	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PF	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PG	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PH	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PI	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PJ	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PK	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PL	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG17927-PM	160740	NP_060004	0	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG3936-PA	190198	NP_060087	0	NOTCH1;TAN1	TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG; TAN1	Aortic valve disease, 109730 (3);Leukemia, T-cell acute lymphoblastic (2)
CG34123-PB	607009	NP_060132	0	TRPM6;CHAK2	CHANNEL KINASE 2; CHAK2;MELASTATIN-RELATED TRP CATION CHANNEL 6;TRPM6	Hypomagnesemia with secondary hypocalcemia, 602014 (3)
CG34123-PC	607009	NP_060132	0	TRPM6;CHAK2	CHANNEL KINASE 2; CHAK2;MELASTATIN-RELATED TRP CATION CHANNEL 6;TRPM6	Hypomagnesemia with secondary hypocalcemia, 602014 (3)
CG34123-PD	607009	NP_060132	0	TRPM6;CHAK2	CHANNEL KINASE 2; CHAK2;MELASTATIN-RELATED TRP CATION CHANNEL 6;TRPM6	Hypomagnesemia with secondary hypocalcemia, 602014 (3)
CG34123-PB	605692	NP_060142	0	TRPM7;LTRPC7;CHAK	CHAK;LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; LTRPC7;TRANSIENT RECEPTOR POTENTIAL-PHOSPHOLIPASE C-INTERACTING KINASE; TRP-PLIK;TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}, 105500 (3)
CG34123-PC	605692	NP_060142	0	TRPM7;LTRPC7;CHAK	CHAK;LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; LTRPC7;TRANSIENT RECEPTOR POTENTIAL-PHOSPHOLIPASE C-INTERACTING KINASE; TRP-PLIK;TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}, 105500 (3)
CG34123-PD	605692	NP_060142	0	TRPM7;LTRPC7;CHAK	CHAK;LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; LTRPC7;TRANSIENT RECEPTOR POTENTIAL-PHOSPHOLIPASE C-INTERACTING KINASE; TRP-PLIK;TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}, 105500 (3)
CG6550-PA	611259	NP_060244	0	CDKAL1		{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
CG3696-PA	608892	NP_060250	0	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG10181-PA	171060	NP_061337	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG10226-PA	171060	NP_061337	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG3879-PA	171060	NP_061337	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG8523-PA	171060	NP_061337	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG10181-PA	171060	NP_061338	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG10226-PA	171060	NP_061338	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG3879-PA	171060	NP_061338	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG8523-PA	171060	NP_061338	0	ABCB4;MDR3;PGY3	MULTIDRUG RESISTANCE 3; MDR3;P-GLYCOPROTEIN 3; PGY3	Cholestasis, familial intrahepatic, of pregnancy, 147480 (3);Cholestasis, progressive familial intrahepatic 3, 602347 (3);Gallbladder disease 1, 600803 (3)
CG2118-PA	609010	NP_064551	0	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG2118-PB	609010	NP_064551	0	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1651-PA	612641	NP_065208	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PB	612641	NP_065208	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PC	612641	NP_065208	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PD	612641	NP_065208	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PA	612641	NP_065208	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PB	612641	NP_065208	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PA	612641	NP_065209	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PB	612641	NP_065209	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PC	612641	NP_065209	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PD	612641	NP_065209	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PA	612641	NP_065209	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PB	612641	NP_065209	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PA	612641	NP_065210	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PB	612641	NP_065210	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PC	612641	NP_065210	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG1651-PD	612641	NP_065210	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PA	612641	NP_065210	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG7462-PB	612641	NP_065210	0	ANK1;SPH2	ANKYRIN, ERYTHROCYTIC	Spherocytosis, type 1, 182900 (3)
CG12602-PA	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PA	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PB	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PC	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PD	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PE	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PF	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PG	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PH	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG18617-PA	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG18617-PB	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG7678-PA	605239	NP_065683	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1651-PA	106410	NP_066187	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PB	106410	NP_066187	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PC	106410	NP_066187	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG1651-PD	106410	NP_066187	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG7462-PA	106410	NP_066187	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG7462-PB	106410	NP_066187	0	ANK2;LQT4	ANKYRIN, BRAIN;ANKYRIN, NEURONAL;ANKYRIN, NONERYTHROID;ANKYRIN-B	Cardiac arrhythmia, ankyrin-B-related, 600919 (3);Long QT syndrome-4, 600919 (3)
CG9071-PA	182390	NP_066287	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9071-PB	182390	NP_066287	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PA	182390	NP_066287	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PB	182390	NP_066287	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG9907-PC	182390	NP_066287	0	SCN2A;SCN2A1	FORMERLY;NAV1.2;SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1,	Seizures, afebrile, 604233 (3);Seizures, benign familial neonatal-infantile, 607745 (3)
CG15899-PB	607904	NP_066921	0	CACNA1H;EIG6		{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CG1725-PB	300189	NP_066943	0	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG1725-PH	300189	NP_066943	0	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG11155-PA	138244	NP_068775	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG3822-PA	138244	NP_068775	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG9935-PB	138244	NP_068775	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG9935-PC	138244	NP_068775	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG6904-PA	138571	NP_068776	0	GYS2	GLYCOGEN SYNTHASE, LIVER;LIVER GLYCOGEN SYNTHASE	Glycogen storage disease, type 0, 240600 (3)
CG6904-PB	138571	NP_068776	0	GYS2	GLYCOGEN SYNTHASE, LIVER;LIVER GLYCOGEN SYNTHASE	Glycogen storage disease, type 0, 240600 (3)
CG6904-PC	138571	NP_068776	0	GYS2	GLYCOGEN SYNTHASE, LIVER;LIVER GLYCOGEN SYNTHASE	Glycogen storage disease, type 0, 240600 (3)
CG11579-PA	173325	NP_068831	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PB	173325	NP_068831	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PC	173325	NP_068831	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PD	173325	NP_068831	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG11579-PE	173325	NP_068831	0	ARVD12;DP3;JUP;PDGB	CATENIN, GAMMA;DESMOPLAKIN III; DP III; DP3;PLAKOGLOBIN; PKGB	Arrhythmogenic right ventricular dysplasia, familial, 12, 611528 (3);Naxos disease, 601214 (3)
CG17941-PA	605516	NP_071407	0	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG3352-PA	605516	NP_071407	0	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG7749-PA	605516	NP_071407	0	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG7749-PB	605516	NP_071407	0	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG3267-PA	609014	NP_071415	0	MCCC2;MCCB	3-@METHYLCROTONYL-CoA CARBOXYLASE, BETA; MCCB;3-@METHYLCROTONYL-CoA CARBOXYLASE, NON-BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
CG1516-PA	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PB	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PD	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PE	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PG	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PI	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PJ	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PK	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG1516-PL	608786	NP_071504	0	PC		Pyruvate carboxylase deficiency, 266150 (3)
CG9209-PA	139150	NP_072179	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG9209-PB	139150	NP_072179	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG9209-PC	139150	NP_072179	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG9209-PD	139150	NP_072179	0	CMAVM;GAP;PKWS;RASA1	GTPase-ACTIVATING PROTEIN; GAP;GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN	Basal cell carcinoma, somatic (3);Capillary malformation-arteriovenous malformation, 608354 (3);Parkes Weber syndrome, 608355 (3)
CG15792-PA	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PB	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PC	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PD	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PA	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PB	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PC	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PD	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PE	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PF	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PG	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PH	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PI	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PJ	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PK	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PL	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PM	160745	NP_074035	0	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG8732-PA	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PB	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PC	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PD	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PE	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PF	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PG	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PH	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG8732-PI	300157	NP_075266	0	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG3936-PA	600275	NP_077719	0	NOTCH2;AGS2		Alagille syndrome 2, 610205 (3)
CG15792-PA	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PB	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PC	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PD	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PA	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PB	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PC	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PD	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PE	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PF	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PG	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PH	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PI	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PJ	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PK	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PL	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17927-PM	608568	NP_079005	0	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG4567-PA	606639	NP_079272	0	COXPD1;EFG1;GFM;GFM1	ELONGATION FACTOR G1; EFG; EFG1;GFM	Combined oxidative phosphorylation deficiency 1, 609060 (3)
CG6939-PA	607697	NP_112224	0	CMT4B2;MTMR13;SBF2	KIAA1766;MYOTUBULARIN-RELATED 13; MTMR13	Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
CG6939-PB	607697	NP_112224	0	CMT4B2;MTMR13;SBF2	KIAA1766;MYOTUBULARIN-RELATED 13; MTMR13	Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
CG11111-PA	608921	NP_112497	0	CORD5;NIR1;PITPNM3	PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1	Cone-rod dystrophy 5, 600977 (3)
CG11111-PB	608921	NP_112497	0	CORD5;NIR1;PITPNM3	PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1	Cone-rod dystrophy 5, 600977 (3)
CG11111-PC	608921	NP_112497	0	CORD5;NIR1;PITPNM3	PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1	Cone-rod dystrophy 5, 600977 (3)
CG11111-PD	608921	NP_112497	0	CORD5;NIR1;PITPNM3	PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1	Cone-rod dystrophy 5, 600977 (3)
CG8184-PB	300697	NP_113584	0	HUWE1;KIAA0312;LASU1;UREB1	KIAA0312;LASU1;UPSTREAM REGULATORY ELEMENT-BINDING PROTEIN 1; UREB1;URE-BINDING PROTEIN 1	Mental retardation, X-linked syndromic, Turner type, 300706 (3)
CG31793-PA	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PA	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PB	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PC	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PD	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PE	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PF	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PG	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PH	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PI	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PJ	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PK	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PL	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PM	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PN	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PO	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PP	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PQ	607040	NP_115972	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG1250-PA	610512	NP_116780	0			
CG1250-PB	610512	NP_116780	0			
CG1250-PA	610512	NP_116781	0			
CG1250-PB	610512	NP_116781	0			
CG31793-PA	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PA	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PB	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PC	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PD	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PE	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PF	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PG	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PH	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PI	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PJ	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PK	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PL	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PM	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PN	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PO	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PP	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PQ	607040	NP_149163	0	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG2093-PA	605978	NP_150648	0	CHAC;VPS13A	CHAC GENE; CHAC;CHOREIN;KIAA0986	Choreoacanthocytosis, 200150 (3)
CG8479-PA	605290	NP_570844	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_570844	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PA	605290	NP_570845	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_570845	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PA	605290	NP_570846	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_570846	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PA	605290	NP_570847	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_570847	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PA	605290	NP_570848	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_570848	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PA	605290	NP_570849	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_570849	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PA	605290	NP_570850	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG8479-PB	605290	NP_570850	0	NPG;NTG;OPA1		Optic atrophy 1, 165500 (3);Optic atrophy and deafness, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3)
CG12602-PA	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PA	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PB	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PC	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PD	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PE	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PF	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PG	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PH	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG18617-PA	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG18617-PB	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG7678-PA	605239	NP_570855	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG12602-PA	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PA	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PB	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PC	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PD	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PE	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PF	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PG	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG1709-PH	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG18617-PA	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG18617-PB	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG7678-PA	605239	NP_570856	0	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG32019-PA	188840	NP_596869	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PC	188840	NP_596869	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PD	188840	NP_596869	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PE	188840	NP_596869	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PA	188840	NP_597676	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PC	188840	NP_597676	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PD	188840	NP_597676	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PE	188840	NP_597676	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG17704-PE	608667	NP_597677	0	NIPBL;CDLS1	DELANGIN	Cornelia de Lange syndrome 1, 122470 (3)
CG17704-PF	608667	NP_597677	0	NIPBL;CDLS1	DELANGIN	Cornelia de Lange syndrome 1, 122470 (3)
CG32019-PA	188840	NP_597681	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PC	188840	NP_597681	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PD	188840	NP_597681	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG32019-PE	188840	NP_597681	0	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG5594-PA	604878	NP_598408	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PB	604878	NP_598408	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PC	604878	NP_598408	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG5594-PD	604878	NP_598408	0	ACCPN;KCC3;KCC3A;KCC3B;SLC12A6	POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3;SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
CG4548-PA	300032	NP_612114	0	ATRX;MRXHF1;SFM1;SHS;XH2;XNP	HELICASE 2, X-LINKED; XH2;X-LINKED NUCLEAR PROTEIN GENE; XNP	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3);Alpha-thalassemia/mental retardation syndrome, 301040 (3);Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
CG4548-PB	300032	NP_612114	0	ATRX;MRXHF1;SFM1;SHS;XH2;XNP	HELICASE 2, X-LINKED; XH2;X-LINKED NUCLEAR PROTEIN GENE; XNP	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3);Alpha-thalassemia/mental retardation syndrome, 301040 (3);Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
CG17603-PA	313650	NP_620278	0	BA2R;CCG1;DYT3;TAF1;TAF2A	250-KD; TAF1;BA2R;CELL CYCLE BLOCK, G1-TO-S; CCGS;CELL CYCLE GENE 1;CELL CYCLE, G1 PHASE DEFECT; CCG1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250	Dystonia-Parkinsonism, X-linked, 314250 (3)
CG17603-PB	313650	NP_620278	0	BA2R;CCG1;DYT3;TAF1;TAF2A	250-KD; TAF1;BA2R;CELL CYCLE BLOCK, G1-TO-S; CCGS;CELL CYCLE GENE 1;CELL CYCLE, G1 PHASE DEFECT; CCG1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250	Dystonia-Parkinsonism, X-linked, 314250 (3)
CG17603-PC	313650	NP_620278	0	BA2R;CCG1;DYT3;TAF1;TAF2A	250-KD; TAF1;BA2R;CELL CYCLE BLOCK, G1-TO-S; CCGS;CELL CYCLE GENE 1;CELL CYCLE, G1 PHASE DEFECT; CCG1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250	Dystonia-Parkinsonism, X-linked, 314250 (3)
CG9799-PA	609669	NP_644810	0	GLC1G;TAWDRP;WDR36	T-CELL ACTIVATION WD REPEAT-CONTAINING PROTEIN; TAWDRP;UTP21, S. CEREVISIAE, HOMOLOG OF; UTP21	Glaucoma 1, open angle, G, 609887 (3)
CG5670-PA	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG5670-PB	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG5670-PC	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG5670-PD	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG5670-PE	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG5670-PF	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG5670-PG	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG5670-PH	182350	NP_689509	0	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG31132-PA	300553	NP_694984	0	BRWD3;MRX93		Mental retardation, X-linked 93, 300659 (3)
CG1782-PA	314370	NP_695012	0	A1ST;AMCX1;GXP1;SMAX2;UBE1	BN75 TEMPERATURE SENSITIVITY COMPLEMENTING; GXP1	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
CG3725-PA	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PB	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PC	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PD	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PE	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PF	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PG	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG3725-PH	108740	NP_733765	0	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG7145-PA	606811	NP_733844	0	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG7145-PB	606811	NP_733844	0	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG7145-PD	606811	NP_733844	0	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG3182-PA	152427	NP_742054	0	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG3182-PB	152427	NP_742054	0	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG8107-PA	114240	NP_775110	0	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG3725-PA	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PB	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PC	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PD	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PE	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PF	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PG	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG3725-PH	108730	NP_775293	0	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG7020-PA	611379	NP_775873	0	DIP2B;KIAA1463	KIAA1463	Mental retardation, FRA12A type, 136630 (3)
CG11155-PA	138244	NP_786944	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG3822-PA	138244	NP_786944	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG9935-PB	138244	NP_786944	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG9935-PC	138244	NP_786944	0	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG3401-PA	612850	NP_821080	0	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG4869-PA	612850	NP_821080	0	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG9277-PA	612850	NP_821080	0	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG9277-PB	612850	NP_821080	0	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG9277-PC	612850	NP_821080	0	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG9277-PD	612850	NP_821080	0	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG9359-PA	612850	NP_821080	0	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG6235-PA	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PB	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PC	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PD	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PE	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PF	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PG	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PH	604325	NP_858060	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PA	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PB	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PC	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PD	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PE	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PF	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PG	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PH	604325	NP_858061	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PA	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PB	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PC	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PD	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PE	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PF	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PG	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PH	604325	NP_858062	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PA	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PB	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PC	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PD	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PE	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PF	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PG	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PH	604325	NP_858063	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PA	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PB	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PC	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PD	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PE	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PF	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PG	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG6235-PH	604325	NP_858064	0	PPP2R2B	B55-BETA;PP2AB-BETA;PP2AB55-BETA;PP2APR55-BETA;PR55-BETA	Spinocerebellar ataxia 12, 604326 (3)
CG17291-PA	603113	NP_859050	0	PPP2R1B	PP2AA-BETA	Lung cancer, 211980 (3)
CG17291-PB	603113	NP_859050	0	PPP2R1B	PP2AA-BETA	Lung cancer, 211980 (3)
CG1799-PA	146690	NP_899066	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PB	146690	NP_899066	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG1799-PC	146690	NP_899066	0	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG8566-PD	605995	NP_904325	0	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG9071-PA	600163	NP_932173	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9071-PB	600163	NP_932173	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PA	600163	NP_932173	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PB	600163	NP_932173	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG9907-PC	600163	NP_932173	0	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG10236-PA	600805	NP_937762	0	LAMA3;LOCS	BM600;EPILIGRIN, 170-KD SUBUNIT;LAM5, ALPHA-3 SUBUNIT;LAMININ 5, ALPHA-3 SUBUNIT;LAMININ A3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3);Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);Laryngoonychocutaneous syndrome, 245660 (3)
CG12101-PA	118190	NP_955472	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG12101-PB	118190	NP_955472	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG7235-PA	118190	NP_955472	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG7235-PB	118190	NP_955472	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG7235-PC	118190	NP_955472	0	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG1522-PA	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PB	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PC	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PD	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PE	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PF	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PG	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PH	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PI	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG1522-PJ	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PA	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PB	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PC	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG4894-PD	114205	NP_955630	0	CACNA1C;CACNL1A1;CCHL1A1;TS	CACH2;CACNL1A1;CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE;;CaV1.2;CCHL1A1;DHPR, ALPHA-1 SUBUNIT	Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3)
CG9115-PA	603557	NP_958435	0	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG9115-PA	603557	NP_958438	0	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG8433-PA	608210	NP_997005	0	EXT2		Exostoses, multiple, type 2, 133701 (3)
CG8433-PB	608210	NP_997005	0	EXT2		Exostoses, multiple, type 2, 133701 (3)
CG6938-PA	608662	NP_998764	0	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG8732-PD	300157	NP_004449	2e-180	ACS4;ACSL4;FACL4;MRX63	ACYL-CoA SYNTHETASE 4; ACS4;FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4	Mental retardation, X-linked nonspecific, 63, 300387 (3)
CG5125-PA	606808	NP_059129	3e-180	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG1140-PB	601424	NP_000427	4e-180	OXCT;OXCT1;SCOT	OXCT;SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE; SCOT	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
CG8442-PA	305915	NP_000819	4e-180	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG33087-PC	603507	NP_002327	4e-180	ADCAD2;LRP6		{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
CG3333-PA	300126	NP_001354	5e-180	DKC;DKC1		Dyskeratosis congenita-1, 305000 (3);Hoyeraal-Hreidarsson syndrome, 300240 (3)
CG3333-PB	300126	NP_001354	5e-180	DKC;DKC1		Dyskeratosis congenita-1, 305000 (3);Hoyeraal-Hreidarsson syndrome, 300240 (3)
CG7627-PA	607040	NP_115972	6e-180	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG7627-PA	607040	NP_149163	6e-180	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG1140-PA	601424	NP_000427	1e-179	OXCT;OXCT1;SCOT	OXCT;SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE; SCOT	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
CG4562-PA	607040	NP_115972	2e-179	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG4562-PA	607040	NP_149163	2e-179	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG5165-PA	171900	NP_002624	6e-179	PGM1;GSD14		Glycogen storage disease XIV, 612934 (3)
CG6703-PA	300172	NP_003679	7e-179	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG2830-PA	118190	NP_002147	1e-178	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG6827-PA	604569	NP_054860	1e-178	AUTS15;CASPR2;CDFE;CNTNAP2;NRXN4	CONTACTIN-ASSOCIATED PROTEIN 2; CASPR2;NEUREXIN IV, DROSOPHILA, HOMOLOG OF; NRXN4	Cortical dysplasia-focal epilepsy syndrome, 610042 (3);{Autism, susceptibility to, 15}, 612100 (3)
CG2830-PA	118190	NP_955472	1e-178	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG9629-PA	107323	NP_001173	2e-178	ALDH7A1;ATQ1;EPD;PDE	AASA DEHYDROGENASE;ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE;ALPHA-AASA DEHYDROGENASE;ANTIQUITIN; ATQ1	Epilepsy, pyridoxine-dependent, 266100 (3)
CG33087-PC	603506	NP_002326	2e-178	BMND1;EVR4;LR3;LRP5;LRP7;OPPG;OPTA1;VBCH2	LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 7; LRP7;LR3	Exudative vitreoretinopathy 4, 601813 (3);Hyperostosis, endosteal, 144750 (3);Osteopetrosis, AD type I, 607634 (3);Osteoporosis-pseudoglioma syndrome, 259770 (3);Osteosclerosis, 144750 (3);van Buchem disease, type 2, 607636 (3);[Bone mineral density variability 1], 601884 (3);{Osteoporosis}, 166710 (3)
CG4006-PC	164730	NP_001014431	4e-178	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4006-PC	164730	NP_001014432	4e-178	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4006-PC	164730	NP_005154	4e-178	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG3333-PA	300126	NP_001135935	8e-178	DKC;DKC1		Dyskeratosis congenita-1, 305000 (3);Hoyeraal-Hreidarsson syndrome, 300240 (3)
CG3333-PB	300126	NP_001135935	8e-178	DKC;DKC1		Dyskeratosis congenita-1, 305000 (3);Hoyeraal-Hreidarsson syndrome, 300240 (3)
CG8440-PA	601545	NP_000421	1e-177	LIS1;PAFAH1B1	LIS1 GENE; LIS1;PAFAH1B1	Lissencephaly-1, 607432 (3);Subcortical laminar heterotopia (3)
CG8440-PB	601545	NP_000421	1e-177	LIS1;PAFAH1B1	LIS1 GENE; LIS1;PAFAH1B1	Lissencephaly-1, 607432 (3);Subcortical laminar heterotopia (3)
CG8440-PC	601545	NP_000421	1e-177	LIS1;PAFAH1B1	LIS1 GENE; LIS1;PAFAH1B1	Lissencephaly-1, 607432 (3);Subcortical laminar heterotopia (3)
CG8440-PD	601545	NP_000421	1e-177	LIS1;PAFAH1B1	LIS1 GENE; LIS1;PAFAH1B1	Lissencephaly-1, 607432 (3);Subcortical laminar heterotopia (3)
CG8440-PE	601545	NP_000421	1e-177	LIS1;PAFAH1B1	LIS1 GENE; LIS1;PAFAH1B1	Lissencephaly-1, 607432 (3);Subcortical laminar heterotopia (3)
CG8440-PF	601545	NP_000421	1e-177	LIS1;PAFAH1B1	LIS1 GENE; LIS1;PAFAH1B1	Lissencephaly-1, 607432 (3);Subcortical laminar heterotopia (3)
CG4006-PA	164730	NP_001014431	1e-177	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4006-PB	164730	NP_001014431	1e-177	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4006-PA	164730	NP_001014432	1e-177	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4006-PB	164730	NP_001014432	1e-177	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4006-PA	164730	NP_005154	1e-177	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4006-PB	164730	NP_005154	1e-177	AKT1	ONCOGENE AKT1;PKB-ALPHA;PROTEIN KINASE B-ALPHA;RAC SERINE/THREONINE PROTEIN KINASE	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Ovarian cancer, somatic, 604370 (3);{Schizophrenia, susceptibility to}, 181500 (2)
CG4141-PA	171834	NP_006209	1e-177	PIK3CA	p110-ALPHA;PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, ALPHA	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Gastric cancer, somatic, 137215 (3);Hepatocellular carcinoma, somatic, 114550 (3);Keratosis, seborrheic, somatic, 182000 (3);Nevus, epidermal, 162900 (3);Nonsmall cell lung cancer, somatic, 211980 (3);Ovarian cancer, somatic, 604370 (3)
CG4141-PB	171834	NP_006209	1e-177	PIK3CA	p110-ALPHA;PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, ALPHA	Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Gastric cancer, somatic, 137215 (3);Hepatocellular carcinoma, somatic, 114550 (3);Keratosis, seborrheic, somatic, 182000 (3);Nevus, epidermal, 162900 (3);Nonsmall cell lung cancer, somatic, 211980 (3);Ovarian cancer, somatic, 604370 (3)
CG14709-PA	607040	NP_115972	1e-177	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG14709-PA	607040	NP_149163	1e-177	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6127-PA	601920	NP_000205	2e-177	AGS;AHD;JAG1	JAGL1	Alagille syndrome, 118450 (3);Deafness, congenital heart defects, and posterior embryotoxon (3);Tetralogy of Fallot, 187500 (3)
CG3216-PA	108961	NP_003986	2e-177	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG4545-PA	163970	NP_001034	4e-177	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG17840-PA	609390	NP_055660	4e-177	ALS11;FIG4;KIAA0274;SAC3	KIAA0274;SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 3; SAC3	Amyotrophic lateral sclerosis 11, 612577 (3);Charcot-Marie-Tooth disease, type 4J, 611228 (3)
CG3182-PA	152427	NP_742053	5e-177	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG3182-PB	152427	NP_742053	5e-177	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG5680-PB	602897	NP_620446	6e-177	MAPK10;PRKM10;JNK3	C-JUN KINASE 3; JNK3;PROTEIN KINASE, MITOGEN-ACTIVATED, 10; PRKM10	Epileptic encephalopathy, Lennox-Gastaut type, 606369 (3)
CG12399-PA	603295	NP_001120689	7e-177	MADH6;MADH9;SMAD9	MADH6, FORMERLY;MADH9;MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 6, FORMERLY;;SMA- AND MAD-RELATED PROTEIN 9;SMAD8	Pulmonary hypertension, primary, 178600 (3)
CG31094-PB	192977	NP_003374	8e-177	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG6827-PB	604569	NP_054860	8e-177	AUTS15;CASPR2;CDFE;CNTNAP2;NRXN4	CONTACTIN-ASSOCIATED PROTEIN 2; CASPR2;NEUREXIN IV, DROSOPHILA, HOMOLOG OF; NRXN4	Cortical dysplasia-focal epilepsy syndrome, 610042 (3);{Autism, susceptibility to, 15}, 612100 (3)
CG9270-PA	607040	NP_115972	8e-177	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG9270-PA	607040	NP_149163	8e-177	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG5680-PB	602897	NP_620448	9e-177	MAPK10;PRKM10;JNK3	C-JUN KINASE 3; JNK3;PROTEIN KINASE, MITOGEN-ACTIVATED, 10; PRKM10	Epileptic encephalopathy, Lennox-Gastaut type, 606369 (3)
CG5680-PB	602897	NP_002744	1e-176	MAPK10;PRKM10;JNK3	C-JUN KINASE 3; JNK3;PROTEIN KINASE, MITOGEN-ACTIVATED, 10; PRKM10	Epileptic encephalopathy, Lennox-Gastaut type, 606369 (3)
CG10738-PA	108961	NP_003986	1e-176	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG9270-PB	607040	NP_115972	1e-176	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG9270-PB	607040	NP_149163	1e-176	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG4779-PA	607474	NP_000178	2e-176	AKU;HGD	HGO	Alkaptonuria, 203500 (3)
CG6383-PA	604210	NP_957705	2e-176	CRB1;LCA8;RP12		Leber congenital amaurosis 8 (3);Pigmented paravenous chorioretinal atrophy, 172870 (3);Retinitis pigmentosa-12, autosomal recessive, 600105 (3)
CG9086-PA	605981	NP_777576	4e-176	JBS;UBR1		Johanson-Blizzard syndrome, 243800 (3)
CG6383-PB	604210	NP_957705	4e-176	CRB1;LCA8;RP12		Leber congenital amaurosis 8 (3);Pigmented paravenous chorioretinal atrophy, 172870 (3);Retinitis pigmentosa-12, autosomal recessive, 600105 (3)
CG2174-PA	276903	NP_000251	5e-176	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG11898-PA	601107	NP_000383	5e-176	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG2174-PA	276903	NP_001120652	5e-176	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG34157-PE	300377	NP_004013	5e-176	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG2174-PA	276903	NP_001120651	1e-175	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17654-PB	131370	NP_001967	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG17654-PC	131370	NP_001967	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG17654-PD	131370	NP_001967	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG17654-PE	131370	NP_001967	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG8799-PA	607040	NP_115972	2e-175	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG8799-PA	607040	NP_149163	2e-175	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG17654-PB	131370	NP_443739	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG17654-PC	131370	NP_443739	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG17654-PD	131370	NP_443739	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG17654-PE	131370	NP_443739	2e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG12139-PB	603506	NP_002326	3e-175	BMND1;EVR4;LR3;LRP5;LRP7;OPPG;OPTA1;VBCH2	LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 7; LRP7;LR3	Exudative vitreoretinopathy 4, 601813 (3);Hyperostosis, endosteal, 144750 (3);Osteopetrosis, AD type I, 607634 (3);Osteoporosis-pseudoglioma syndrome, 259770 (3);Osteosclerosis, 144750 (3);van Buchem disease, type 2, 607636 (3);[Bone mineral density variability 1], 601884 (3);{Osteoporosis}, 166710 (3)
CG10697-PA	107930	NP_000781	5e-175	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG10697-PC	107930	NP_000781	5e-175	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG10697-PA	107930	NP_001076440	5e-175	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG10697-PC	107930	NP_001076440	5e-175	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG1709-PH	611716	NP_036595	5e-175	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG10697-PB	107930	NP_000781	6e-175	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG10697-PB	107930	NP_001076440	6e-175	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG17654-PA	131370	NP_001967	6e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG17654-PA	131370	NP_443739	6e-175	ENO3;GSD13	ENOLASE, BETA;ENOLASE, MUSCLE-SPECIFIC; MSE	Glycogen storage disease XIII, 612932 (3)
CG2174-PB	276903	NP_001120652	9e-175	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG12399-PA	603295	NP_005896	9e-175	MADH6;MADH9;SMAD9	MADH6, FORMERLY;MADH9;MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 6, FORMERLY;;SMA- AND MAD-RELATED PROTEIN 9;SMAD8	Pulmonary hypertension, primary, 178600 (3)
CG6199-PA	601865	NP_000926	1e-174	PLOD2	LH2;LYSINE HYDROXYLASE 2;LYSYL HYDROXYLASE 2;TELOPEPTIDE LYSYL HYDROXYLASE; TLH	Bruck syndrome 2, 609220 (3)
CG6199-PB	601865	NP_000926	1e-174	PLOD2	LH2;LYSINE HYDROXYLASE 2;LYSYL HYDROXYLASE 2;TELOPEPTIDE LYSYL HYDROXYLASE; TLH	Bruck syndrome 2, 609220 (3)
CG2174-PB	276903	NP_001120651	1e-174	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG2174-PB	276903	NP_000251	2e-174	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG31092-PA	192977	NP_001018066	2e-174	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG31094-PB	192977	NP_001018066	2e-174	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG31092-PA	192977	NP_003374	2e-174	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG8107-PA	114240	NP_077320	2e-174	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG8107-PA	114240	NP_000061	5e-174	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG14994-PA	605363	NP_000808	5e-174	GAD1;SCP	GAD;GLUTAMATE DECARBOXYLASE, BRAIN, 67-KD; GAD67	Cerebral palsy, spastic, symmetric, autosomal recessive, 603513 (3)
CG14994-PB	605363	NP_000808	5e-174	GAD1;SCP	GAD;GLUTAMATE DECARBOXYLASE, BRAIN, 67-KD; GAD67	Cerebral palsy, spastic, symmetric, autosomal recessive, 603513 (3)
CG14994-PC	605363	NP_000808	5e-174	GAD1;SCP	GAD;GLUTAMATE DECARBOXYLASE, BRAIN, 67-KD; GAD67	Cerebral palsy, spastic, symmetric, autosomal recessive, 603513 (3)
CG34157-PE	300377	NP_003998	7e-174	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PE	300377	NP_004001	7e-174	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PE	300377	NP_000100	8e-174	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PE	300377	NP_003997	8e-174	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PE	300377	NP_004000	8e-174	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PE	300377	NP_004003	8e-174	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG12262-PA	607008	NP_000007	1e-173	ACADM;MCAD	MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE; MCAD; MCADH	Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
CG12262-PA	607008	NP_001120800	1e-173	ACADM;MCAD	MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE; MCAD; MCADH	Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
CG5889-PA	154270	NP_002387	1e-173	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG34157-PE	300377	NP_004002	1e-173	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG10738-PB	108961	NP_003986	2e-173	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG7070-PB	609712	NP_000289	3e-173	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG34157-PE	300377	NP_004012	3e-173	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG7070-PB	609712	NP_870986	3e-173	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG8782-PA	258870	NP_000265	4e-173	OAT	GYRATE ATROPHY;HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA; HOGA;OAT DEFICIENCY;OKT DEFICIENCY;ORNITHINE KETO ACID AMINOTRANSFERASE DEFICIENCY;ORNITHINE-DELTA-AMINOTRANSFERASE DEFICIENCY	Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive (3)
CG7070-PA	609712	NP_000289	4e-173	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG30361-PA	604096	NP_000834	5e-173	CSNB1B;GRM6;MGLUR6	MGLUR6	Night blindness, congenital stationary, type 1B, 257270 (3)
CG34157-PE	300377	NP_004004	5e-173	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG7070-PA	609712	NP_870986	7e-173	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG18076-PB	601282	NP_000436	8e-173	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG9071-PB	600163	NP_001092875	8e-173	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG34157-PE	300377	NP_004005	9e-173	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG18076-PG	601282	NP_000436	1e-172	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG8581-PB	120470	NP_005206	1e-172	DCC	COLORECTAL CANCER-RELATED CHROMOSOME SEQUENCE 18; CRC18;CRCR1	Colorectal cancer (3)
CG9071-PB	600702	NP_055006	1e-172		NAV1.6	
CG8177-PB	109270	NP_000333	2e-172	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8177-PC	109270	NP_000333	2e-172	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8177-PF	109270	NP_000333	2e-172	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8177-PH	109270	NP_000333	2e-172	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8177-PI	109270	NP_000333	2e-172	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8177-PJ	109270	NP_000333	2e-172	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG34157-PD	300377	NP_004014	2e-172	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG8177-PD	109270	NP_000333	3e-172	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG6214-PK	607040	NP_660187	4e-172	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6190-PA	601623	NP_570853	7e-172	ANCR;UBE3A	HUMAN PAPILLOMAVIRUS E6-ASSOCIATED PROTEIN; E6AP	Angelman syndrome, 105830 (3)
CG6190-PA	601623	NP_000453	1e-171	ANCR;UBE3A	HUMAN PAPILLOMAVIRUS E6-ASSOCIATED PROTEIN; E6AP	Angelman syndrome, 105830 (3)
CG8380-PA	182138	NP_001036	1e-171	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG6190-PA	601623	NP_570854	1e-171	ANCR;UBE3A	HUMAN PAPILLOMAVIRUS E6-ASSOCIATED PROTEIN; E6AP	Angelman syndrome, 105830 (3)
CG9071-PA	600702	NP_055006	2e-171		NAV1.6	
CG6214-PB	607040	NP_660187	2e-171	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG31116-PC	118425	NP_000074	3e-171	CLCN1	CHLORIDE CHANNEL, MUSCLE; CLC1	Myotonia congenita, dominant, 160800 (3);Myotonia congenita, recessive, 255700 (3);Myotonia levior, recessive (3)
CG3822-PA	305915	NP_015564	3e-171	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG9547-PA	608801	NP_000150	4e-171	GCDH		Glutaricaciduria, type I, 231670 (3)
CG6668-PA	606439	NP_001121185	4e-171	SPG3A	ATLASTIN;ATLASTIN 1; ATL1	Spastic paraplegia-3A, 182600 (3)
CG6668-PB	606439	NP_001121185	4e-171	SPG3A	ATLASTIN;ATLASTIN 1; ATL1	Spastic paraplegia-3A, 182600 (3)
CG6668-PA	606439	NP_853629	4e-171	SPG3A	ATLASTIN;ATLASTIN 1; ATL1	Spastic paraplegia-3A, 182600 (3)
CG6668-PB	606439	NP_853629	4e-171	SPG3A	ATLASTIN;ATLASTIN 1; ATL1	Spastic paraplegia-3A, 182600 (3)
CG6214-PI	607040	NP_660187	5e-171	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PN	607040	NP_660187	5e-171	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PL	607040	NP_660187	6e-171	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PJ	607040	NP_660187	7e-171	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6199-PA	601865	NP_891988	7e-171	PLOD2	LH2;LYSINE HYDROXYLASE 2;LYSYL HYDROXYLASE 2;TELOPEPTIDE LYSYL HYDROXYLASE; TLH	Bruck syndrome 2, 609220 (3)
CG6199-PB	601865	NP_891988	7e-171	PLOD2	LH2;LYSINE HYDROXYLASE 2;LYSYL HYDROXYLASE 2;TELOPEPTIDE LYSYL HYDROXYLASE; TLH	Bruck syndrome 2, 609220 (3)
CG1725-PB	300189	NP_065781	9e-171	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG31792-PA	607040	NP_115972	9e-171	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG31792-PA	607040	NP_149163	9e-171	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6668-PA	606439	NP_056999	1e-170	SPG3A	ATLASTIN;ATLASTIN 1; ATL1	Spastic paraplegia-3A, 182600 (3)
CG6668-PB	606439	NP_056999	1e-170	SPG3A	ATLASTIN;ATLASTIN 1; ATL1	Spastic paraplegia-3A, 182600 (3)
CG4215-PC	162200	NP_000242	2e-170	NF1;NFNS;VRNF;WSS	NEUROFIBROMATOSIS;VON RECKLINGHAUSEN DISEASE	Leukemia, juvenile myelomonocytic, 607785 (3);Melanoma, desmoplastic neurotropic (2);Neurofibromatosis, familial spinal, 162210 (3);Neurofibromatosis, type 1 (3);Neurofibromatosis-Noonan syndrome, 601321 (3);Pseudarthrosis, tibial, in NF1 (3);Watson syndrome, 193520 (3)
CG4215-PC	609309	NP_000242	2e-170	COCA1;FCC1;HNPCC1;MSH2		Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3)
CG1725-PH	300189	NP_065781	2e-170	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG5621-PB	138244	NP_068775	2e-170	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG5621-PB	138244	NP_786944	2e-170	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG6706-PA	607340	NP_005449	3e-170	GABBR2;GPR51	G PROTEIN-COUPLED RECEPTOR 51; GPR51;GABA-B RECEPTOR, R2 SUBUNIT; GABABR2	{Nicotine dependence, protection against}, 188890 (3);{Nicotine dependence, susceptibility to}, 188890 (3)
CG6706-PB	607340	NP_005449	3e-170	GABBR2;GPR51	G PROTEIN-COUPLED RECEPTOR 51; GPR51;GABA-B RECEPTOR, R2 SUBUNIT; GABABR2	{Nicotine dependence, protection against}, 188890 (3);{Nicotine dependence, susceptibility to}, 188890 (3)
CG6214-PM	607040	NP_660187	3e-170	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG30361-PB	604096	NP_000834	4e-170	CSNB1B;GRM6;MGLUR6	MGLUR6	Night blindness, congenital stationary, type 1B, 257270 (3)
CG10367-PA	142910	NP_001124468	4e-170	HMGCR;LDLCQ3	HMG-CoA REDUCTASE;LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	[Low density lipoprotein cholesterol level QTL 3] (3);[Statins, attenuated cholesterol lowering by] (3)
CG10367-PB	142910	NP_001124468	4e-170	HMGCR;LDLCQ3	HMG-CoA REDUCTASE;LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	[Low density lipoprotein cholesterol level QTL 3] (3);[Statins, attenuated cholesterol lowering by] (3)
CG9071-PA	600163	NP_001092875	5e-170	CDCD2;CMD1E;HB1;IVF;LQT3;SCN5A;SSS1	NAV1.5	Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, idiopathic, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3)
CG8380-PA	126455	NP_001035	1e-169	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG10231-PA	604961	NP_001070665	1e-169	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG6214-PF	607040	NP_660187	1e-169	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG16718-PB	608662	NP_001136121	3e-169	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG6214-PA	607040	NP_660187	3e-169	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PO	607040	NP_660187	3e-169	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG16718-PB	608662	NP_998764	3e-169	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG1799-PB	146690	NP_001136047	4e-169	IMPDH1;LCA11;RP10	IMPD;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1	Leber congenital amaurosis 11 (3);Retinitis pigmentosa-10, 180105 (3)
CG6214-PC	607040	NP_660187	4e-169	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PE	607040	NP_660187	4e-169	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG6214-PG	607040	NP_660187	5e-169	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG16718-PA	608662	NP_001136121	6e-169	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG1725-PA	300189	NP_065781	6e-169	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG16718-PA	608662	NP_998764	6e-169	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG2316-PF	300371	NP_000024	8e-169	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG18076-PA	601282	NP_958780	8e-169	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG1725-PD	300189	NP_065781	9e-169	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG1725-PE	300189	NP_065781	9e-169	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG34157-PD	300377	NP_004011	2e-168	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG6214-PD	607040	NP_660187	2e-168	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG18076-PE	601282	NP_958780	2e-168	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG6214-PH	607040	NP_660187	3e-168	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG31116-PD	600570	NP_004357	4e-168	CLCN2;ECA3;EGI3;EGMA	CLC2	Epilepsy with grand mal seizures on awakening, 607628 (3);Epilepsy, childhood absence, 607682 (3);Epilepsy, juvenile absence, 607631 (3);Epilepsy, juvenile myoclonic, 606904 (3)
CG1725-PA	300189	NP_066943	4e-168	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG1725-PD	300189	NP_066943	5e-168	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG1725-PE	300189	NP_066943	5e-168	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG18076-PA	601282	NP_958781	7e-168	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG12092-PA	608010	NP_001095118	8e-168	NPC1L1		[Ezetimibe, nonresponse to] (3)
CG6767-PA	311850	NP_002755	9e-168	PRPS1;CMTX5		Arts syndrome, 301835 (3);Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3);Gout, PRPS-related, 300661 (3);Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)
CG3127-PA	311800	NP_000282	1e-167	PGK1;PGKA	3-@PHOSPHOGLYCEROKINASE;PGKA	Phosphoglycerate kinase 1 deficiency, 300653 (3)
CG6713-PG	163730	NP_000616	1e-167	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG18076-PE	601282	NP_958781	1e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG6214-PQ	607040	NP_660187	2e-167	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG18076-PB	601282	NP_958785	2e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PG	601282	NP_958785	2e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG1725-PG	300189	NP_065781	3e-167	DLG3;MRX90;NEDLG;SAP102	NEUROENDOCRINE DLG; NEDLG;SYNAPSE-ASSOCIATED PROTEIN 102; SAP102	Mental retardation, X-linked-90 (3)
CG18076-PG	601282	NP_958786	3e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PE	601282	NP_000436	4e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG3822-PA	305915	NP_000819	4e-167	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG10701-PD	179410	NP_002897	4e-167	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG10701-PE	179410	NP_002897	4e-167	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG10701-PF	179410	NP_002897	4e-167	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG10701-PG	179410	NP_002897	4e-167	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG10701-PH	179410	NP_002897	4e-167	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG10701-PI	179410	NP_002897	4e-167	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG10701-PJ	179410	NP_002897	4e-167	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG18076-PB	601282	NP_958783	4e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PA	601282	NP_000436	5e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PG	601282	NP_958783	5e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG31116-PA	600570	NP_004357	7e-167	CLCN2;ECA3;EGI3;EGMA	CLC2	Epilepsy with grand mal seizures on awakening, 607628 (3);Epilepsy, childhood absence, 607682 (3);Epilepsy, juvenile absence, 607631 (3);Epilepsy, juvenile myoclonic, 606904 (3)
CG18076-PB	601282	NP_958786	7e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PG	601282	NP_958781	8e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PA	601282	NP_958786	8e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG13521-PB	602431	NP_002933	9e-167	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG18076-PB	601282	NP_958782	9e-167	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG13521-PA	602431	NP_001122401	1e-166	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG13521-PB	602431	NP_001122401	1e-166	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG13521-PA	602431	NP_002933	1e-166	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG31092-PB	192977	NP_003374	1e-166	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG18076-PB	601282	NP_958781	1e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PB	601282	NP_958784	1e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PE	601282	NP_958786	1e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG31092-PB	192977	NP_001018066	2e-166	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG18076-PB	601282	NP_958780	2e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PG	601282	NP_958782	2e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PA	601282	NP_958784	2e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PE	601282	NP_958784	2e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PA	601282	NP_958785	2e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PE	601282	NP_958785	2e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG8279-PA	604961	NP_001070665	3e-166	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG18076-PG	601282	NP_958780	3e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PA	601282	NP_958782	3e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PE	601282	NP_958782	3e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PA	601282	NP_958783	3e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PG	601282	NP_958784	3e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG6713-PB	163730	NP_000616	4e-166	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG6713-PF	163730	NP_000616	4e-166	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG6713-PJ	163730	NP_000616	4e-166	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG12092-PA	608010	NP_037521	4e-166	NPC1L1		[Ezetimibe, nonresponse to] (3)
CG8183-PA	605995	NP_055889	5e-166	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG8183-PB	605995	NP_055889	5e-166	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG18076-PE	601282	NP_958783	5e-166	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG2835-PA	139320	NP_001070957	8e-166	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG2835-PC	139320	NP_001070957	8e-166	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG8583-PA	608648	NP_009145	9e-166	SEC63		Polycystic liver disease, 174050 (3)
CG2835-PA	139320	NP_536351	1e-165	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG2835-PC	139320	NP_536351	1e-165	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG6713-PG	163729	NP_000594	2e-165	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG5789-PA	607040	NP_115972	2e-165	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG5789-PA	607040	NP_149163	2e-165	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG11326-PA	600310	NP_000086	3e-165	COMP;EDM1;MED;PSACH		Epiphyseal dysplasia, multiple 1, 132400 (3);Pseudoachondroplasia, 177170 (3)
CG6097-PA	607423	NP_001070833	3e-165	POMT1	ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT	Muscular dystrophy, congenital, plus mental retardation, 236670 (3);Muscular dystrophy, limb-girdle, type 2K, 609308 (3);Walker-Warburg syndrome, 236670 (3)
CG6097-PA	607423	NP_001129585	3e-165	POMT1	ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT	Muscular dystrophy, congenital, plus mental retardation, 236670 (3);Muscular dystrophy, limb-girdle, type 2K, 609308 (3);Walker-Warburg syndrome, 236670 (3)
CG31094-PA	192977	NP_003374	3e-165	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG31116-PA	118425	NP_000074	4e-165	CLCN1	CHLORIDE CHANNEL, MUSCLE; CLC1	Myotonia congenita, dominant, 160800 (3);Myotonia congenita, recessive, 255700 (3);Myotonia levior, recessive (3)
CG6214-PP	607040	NP_660187	4e-165	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG4311-PA	600234	NP_005509	5e-165	HMGCS2	3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, MITOCHONDRIAL;HMG-CoA SYNTHASE, MITOCHONDRIAL;MITOCHONDRIAL HMG-CoA SYNTHASE	HMG-CoA synthase-2 deficiency, 605911 (3)
CG4311-PB	600234	NP_005509	5e-165	HMGCS2	3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, MITOCHONDRIAL;HMG-CoA SYNTHASE, MITOCHONDRIAL;MITOCHONDRIAL HMG-CoA SYNTHASE	HMG-CoA synthase-2 deficiency, 605911 (3)
CG4311-PC	600234	NP_005509	5e-165	HMGCS2	3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, MITOCHONDRIAL;HMG-CoA SYNTHASE, MITOCHONDRIAL;MITOCHONDRIAL HMG-CoA SYNTHASE	HMG-CoA synthase-2 deficiency, 605911 (3)
CG4311-PD	600234	NP_005509	5e-165	HMGCS2	3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, MITOCHONDRIAL;HMG-CoA SYNTHASE, MITOCHONDRIAL;MITOCHONDRIAL HMG-CoA SYNTHASE	HMG-CoA synthase-2 deficiency, 605911 (3)
CG4311-PE	600234	NP_005509	5e-165	HMGCS2	3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, MITOCHONDRIAL;HMG-CoA SYNTHASE, MITOCHONDRIAL;MITOCHONDRIAL HMG-CoA SYNTHASE	HMG-CoA synthase-2 deficiency, 605911 (3)
CG6976-PD	602666	NP_057323	5e-165	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG8107-PA	114240	NP_997630	5e-165	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG6976-PB	602666	NP_057323	6e-165	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG6976-PC	602666	NP_057323	6e-165	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG7595-PA	602666	NP_057323	7e-165	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG7595-PB	602666	NP_057323	7e-165	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG6976-PA	602666	NP_057323	8e-165	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG31116-PD	118425	NP_000074	9e-165	CLCN1	CHLORIDE CHANNEL, MUSCLE; CLC1	Myotonia congenita, dominant, 160800 (3);Myotonia congenita, recessive, 255700 (3);Myotonia levior, recessive (3)
CG11913-PA	602985	NP_004541	1e-164	NDUFS2	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 49-KD SUBUNIT	Mitochondrial complex I deficiency, 252010 (3)
CG7595-PA	160777	NP_000250	4e-164	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG7595-PB	160777	NP_000250	4e-164	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2835-PA	139320	NP_000507	4e-164	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG2835-PC	139320	NP_000507	4e-164	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG8681-PB	138244	NP_068775	4e-164	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG2835-PB	139320	NP_001070957	5e-164	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG7595-PA	160777	NP_001135967	5e-164	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG7595-PB	160777	NP_001135967	5e-164	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2835-PB	139320	NP_536351	6e-164	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG4545-PA	126455	NP_001035	9e-164	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG1886-PA	606882	NP_001005918	1e-163	ATP7B;WND		Wilson disease, 277900 (3)
CG6767-PB	311850	NP_002755	1e-163	PRPS1;CMTX5		Arts syndrome, 301835 (3);Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3);Gout, PRPS-related, 300661 (3);Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)
CG6097-PA	607423	NP_009102	2e-163	POMT1	ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT	Muscular dystrophy, congenital, plus mental retardation, 236670 (3);Muscular dystrophy, limb-girdle, type 2K, 609308 (3);Walker-Warburg syndrome, 236670 (3)
CG7779-PA	123825	NP_000078	3e-163	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG6713-PB	163729	NP_000594	3e-163	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG6713-PF	163729	NP_000594	3e-163	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG6713-PJ	163729	NP_000594	3e-163	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG2835-PA	139320	NP_001070956	3e-163	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG2835-PC	139320	NP_001070956	3e-163	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG8594-PA	602727	NP_001107803	3e-163	CLC7;CLCN7;OPTA2;OPTB4	CLC7	Osteopetrosis, autosomal dominant 2, 166600 (3);Osteopetrosis, autosomal recessive 4, 611490 (3)
CG7779-PA	123825	NP_001136036	3e-163	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG10060-PA	139360	NP_002061	3e-163	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG8681-PB	138244	NP_786944	3e-163	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG31094-PB	606945	NP_000518	4e-163	FH;FHC;LDLCQ2;LDLR	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	Hypercholesterolemia, familial, 143890 (3)
CG5621-PA	138244	NP_068775	6e-163	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG5621-PA	138244	NP_786944	6e-163	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG8183-PA	605995	NP_904325	6e-163	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG8183-PB	605995	NP_904325	6e-163	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG31094-PA	192977	NP_001018066	7e-163	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG2674-PA	610550	NP_000420	8e-163	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG2674-PD	610550	NP_000420	8e-163	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG2674-PE	610550	NP_000420	8e-163	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG2674-PF	610550	NP_000420	8e-163	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG2674-PH	610550	NP_000420	8e-163	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG2674-PI	610550	NP_000420	8e-163	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG3937-PB	102565	NP_001120959	8e-163	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG3937-PC	102565	NP_001120959	8e-163	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG3937-PB	102565	NP_001449	8e-163	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG3937-PC	102565	NP_001449	8e-163	ABPA;ABPL;FLN2;FLNC	ABPA;ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;ACTIN-BINDING PROTEIN-LIKE; ABPL;FILAMIN 2; FLN2;FILAMIN, GAMMA	Myopathy, myofibrillar, filamin C-related, 609524 (3)
CG5549-PA	604159	NP_004202	9e-163	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG31094-PA	606945	NP_000518	1e-162	FH;FHC;LDLCQ2;LDLR	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	Hypercholesterolemia, familial, 143890 (3)
CG10545-PA	139130	NP_002066	1e-162	GNB3		{Hypertension, essential, susceptibility to}, 145500 (3)
CG10545-PB	139130	NP_002066	1e-162	GNB3		{Hypertension, essential, susceptibility to}, 145500 (3)
CG10545-PC	139130	NP_002066	1e-162	GNB3		{Hypertension, essential, susceptibility to}, 145500 (3)
CG10545-PD	139130	NP_002066	1e-162	GNB3		{Hypertension, essential, susceptibility to}, 145500 (3)
CG10545-PE	139130	NP_002066	1e-162	GNB3		{Hypertension, essential, susceptibility to}, 145500 (3)
CG10545-PF	139130	NP_002066	1e-162	GNB3		{Hypertension, essential, susceptibility to}, 145500 (3)
CG7627-PA	600509	NP_000343	2e-162	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG8594-PA	602727	NP_001278	2e-162	CLC7;CLCN7;OPTA2;OPTB4	CLC7	Osteopetrosis, autosomal dominant 2, 166600 (3);Osteopetrosis, autosomal recessive 4, 611490 (3)
CG3415-PA	601860	NP_000405	3e-162	HSD17B4	17-@BETA-HSD IV;BIFUNCTIONAL PROTEIN;D-3-@HYDROXYACYL-CoA DEHYDRATASE/D-3-HYDROXYACYL-CoA DEHYDROGENASE;D-BIFUNCTIONAL PROTEIN, PEROXISOMAL;DBP, PEROXISOMAL	D-bifunctional protein deficiency, 261515 (3)
CG2674-PC	610550	NP_000420	3e-162	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG2674-PJ	610550	NP_000420	3e-162	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG2835-PB	139320	NP_000507	3e-162	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG5905-PA	600423	NP_001106818	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG5905-PB	600423	NP_001106818	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG5905-PA	600423	NP_001106819	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG5905-PB	600423	NP_001106819	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG5905-PA	600423	NP_001106820	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG5905-PB	600423	NP_001106820	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG5905-PA	600423	NP_001388	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG5905-PB	600423	NP_001388	3e-162	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG31793-PA	607040	NP_660187	3e-162	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG2107-PA	600650	NP_000089	9e-162	CPT2	CPT II	CPT deficiency, hepatic, type II, 600649 (3);CPT II deficiency, lethal neonatal, 608836 (3);Myopathy due to CPT II deficiency, 255110 (3)
CG4422-PA	300104	NP_001484	2e-161	GDI1;MRX41;MRX48;RABGD1A	OLIGOPHRENIN 2; OPHN2;RAB GDI-ALPHA;RAB GDP-DISSOCIATION INHIBITOR, ALPHA; RABGDIA;RHOGDI	Mental retardation, X-linked nonspecific, 309541 (3)
CG2835-PB	139320	NP_001070956	3e-161	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG14709-PA	601439	NP_064693	3e-161	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG14709-PA	601439	NP_064694	4e-161	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG8224-PA	190181	NP_004603	5e-161	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG7627-PA	607040	NP_660187	5e-161	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG30446-PA	107930	NP_000781	9e-161	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG30446-PA	107930	NP_001076440	9e-161	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG10505-PA	607040	NP_115972	9e-161	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG10505-PA	607040	NP_149163	9e-161	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG7627-PA	601439	NP_064693	1e-160	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11897-PA	607040	NP_115972	1e-160	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG11897-PB	607040	NP_115972	1e-160	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG11897-PA	607040	NP_149163	1e-160	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG11897-PB	607040	NP_149163	1e-160	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG4562-PA	607040	NP_660187	1e-160	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG9270-PA	601439	NP_064693	2e-160	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG31874-PA	136850	NP_000134	3e-160	FH	FUMARASE	Fumarase deficiency, 606812 (3);Leiomyomatosis and renal cell cancer, 605839 (3);Multiple cutaneous and uterine leiomyomata, 150800 (3)
CG12008-PA	604985	NP_008877	3e-160	SPTBN2;SCA5	GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41;SPECTRIN, BETA-III	Spinocerebellar ataxia-5, 600224 (3)
CG12008-PC	604985	NP_008877	3e-160	SPTBN2;SCA5	GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41;SPECTRIN, BETA-III	Spinocerebellar ataxia-5, 600224 (3)
CG12008-PB	604985	NP_008877	4e-160	SPTBN2;SCA5	GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41;SPECTRIN, BETA-III	Spinocerebellar ataxia-5, 600224 (3)
CG9270-PB	601439	NP_064693	4e-160	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6713-PH	163730	NP_000616	6e-160	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG31075-PA	100650	NP_000681	6e-160	ALDH2	ACETALDEHYDE DEHYDROGENASE 2;ALDEHYDE DEHYDROGENASE 2;ALDH, LIVER MITOCHONDRIAL	Alcohol sensitivity, acute, 610251 (3);{Hangover, susceptibility to}, 610251 (3);{Sublingual nitroglycerin, susceptibility to poor response to} (3)
CG10120-PA	154270	NP_002387	1e-159	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG10120-PB	154270	NP_002387	1e-159	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG14709-PA	601439	NP_005682	1e-159	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG9547-PA	608801	NP_039663	1e-159	GCDH		Glutaricaciduria, type I, 231670 (3)
CG12008-PB	182870	NP_000338	2e-159	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG12008-PC	182870	NP_000338	2e-159	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG12008-PB	182870	NP_001020029	2e-159	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG31547-PB	600968	NP_001119580	2e-159	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG9270-PA	601439	NP_064694	2e-159	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG9270-PB	601439	NP_064694	2e-159	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11990-PA	607393	NP_078805	2e-159	C1orf28;HRPT2	C1ORF28;CDC73;PARAFIBROMIN	Hyperparathyroidism, familial primary, 145000 (3);Hyperparathyroidism-jaw tumor syndrome, 145001 (3);Parathyroid adenoma with cystic changes, 145001 (3);Parathyroid carcinoma, 608266 (3)
CG12008-PA	182870	NP_000338	3e-159	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG12008-PA	182870	NP_001020029	3e-159	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG6713-PI	163730	NP_000616	4e-159	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG12008-PC	182870	NP_001020029	4e-159	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG31547-PA	600968	NP_001119580	4e-159	NCCT;SLC12A3;TSC	SLC12A3;SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC	Gitelman syndrome, 263800 (3)
CG2845-PA	164757	NP_004324	7e-159	BRAF	BRAF1;ONCOGENE BRAF;RAFB1	Adenocarcinoma of lung, somatic, 211980 (3);Cardiofaciocutaneous syndrome, 115150 (3);Colorectal cancer, somatic (3);Melanoma, melignant, somatic (3);Nonsmall cell lung cancer, somatic (3)
CG3017-PA	301300	NP_000023	9e-159	ALAS2;ANH1;ASB	5-@AMINOLEVULINATE SYNTHASE, ERYTHROID-SPECIFIC;ALAS, ERYTHROID; ALASE	Anemia, sideroblastic, X-linked, 300751 (3);Protoporphyria, erythropoietic, X-linked dominant, 300752 (3)
CG34157-PC	300377	NP_004009	9e-159	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004009	9e-159	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG3017-PA	301300	NP_001033056	1e-158	ALAS2;ANH1;ASB	5-@AMINOLEVULINATE SYNTHASE, ERYTHROID-SPECIFIC;ALAS, ERYTHROID; ALASE	Anemia, sideroblastic, X-linked, 300751 (3);Protoporphyria, erythropoietic, X-linked dominant, 300752 (3)
CG2048-PA	600864	NP_001884	1e-158			
CG2048-PB	600864	NP_001884	1e-158			
CG2048-PC	600864	NP_001884	1e-158			
CG10701-PB	179410	NP_002897	1e-158	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG34157-PA	300377	NP_004008	1e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PC	300377	NP_004008	1e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004008	1e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004009	1e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004009	1e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004009	1e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004009	1e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG18374-PA	300474	NP_000158	2e-158	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG3017-PA	301300	NP_001033057	2e-158	ALAS2;ANH1;ASB	5-@AMINOLEVULINATE SYNTHASE, ERYTHROID-SPECIFIC;ALAS, ERYTHROID; ALASE	Anemia, sideroblastic, X-linked, 300751 (3);Protoporphyria, erythropoietic, X-linked dominant, 300752 (3)
CG18374-PA	300474	NP_001121599	2e-158	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG34157-PB	300377	NP_004008	2e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004008	2e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004008	2e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004008	2e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG7487-PA	603780	NP_004251	2e-158	RECQ4;RECQL4;RTS	DNA HELICASE, RECQ-LIKE, TYPE 4; RECQ4	Baller-Gerold syndrome, 218600 (3);RAPADILINO syndrome, 266280 (3);Rothmund-Thomson syndrome, 268400 (3)
CG31792-PA	601439	NP_064693	2e-158	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG2048-PA	600864	NP_620693	2e-158			
CG2048-PB	600864	NP_620693	2e-158			
CG2048-PC	600864	NP_620693	2e-158			
CG7873-PA	190090	NP_005408	3e-158	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7873-PB	190090	NP_005408	3e-158	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG5300-PA	608283	NP_060111	3e-158	KIF21A;KIAA1708;FEOM1;CFEOM1	KIAA1708	Fibrosis of extraocular muscles, congenital, 1, 135700 (3)
CG7873-PA	190090	NP_938033	3e-158	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7873-PB	190090	NP_938033	3e-158	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG34157-PB	300377	NP_004009	4e-158	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG14709-PA	607040	NP_660187	5e-158	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG7563-PB	114240	NP_077320	6e-158	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG9270-PA	607040	NP_660187	6e-158	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG33114-PA	108961	NP_003986	7e-158	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG9270-PB	607040	NP_660187	8e-158	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG10701-PA	179410	NP_002897	9e-158	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG7563-PB	114240	NP_000061	1e-157	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG2137-PA	138430	NP_000399	1e-157	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG10772-PA	162150	NP_000430	1e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG2137-PA	138430	NP_001076581	1e-157	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG9270-PA	601439	NP_005682	1e-157	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG9270-PB	601439	NP_005682	1e-157	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG17597-PA	184755	NP_002970	2e-157	SCP2	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SCPx-DEFICIENT,;STEROL CARRIER PROTEIN X; SCPX	Leukoencephalopathy with dystonia and motor neuropathy (3)
CG18374-PA	300474	NP_976325	2e-157	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG3263-PA	188830	NP_002725	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PC	188830	NP_002725	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PG	188830	NP_002725	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PH	188830	NP_002725	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PI	188830	NP_002725	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PJ	188830	NP_002725	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG34157-PE	300377	NP_004008	3e-157	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PE	300377	NP_004009	3e-157	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG3263-PA	188830	NP_997636	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PC	188830	NP_997636	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PG	188830	NP_997636	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PH	188830	NP_997636	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PI	188830	NP_997636	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PJ	188830	NP_997636	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PA	188830	NP_997637	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PC	188830	NP_997637	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PG	188830	NP_997637	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PH	188830	NP_997637	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PI	188830	NP_997637	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PJ	188830	NP_997637	3e-157	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG4703-PA	606885	NP_000008	4e-157	ACADS;SCAD	ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAIN;SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD	Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
CG10772-PC	162150	NP_000430	4e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG10772-PD	162150	NP_000430	4e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG10772-PF	162150	NP_000430	4e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG6713-PE	163730	NP_000616	4e-157	NOS2;NOS2A	NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;NITRIC OXIDE SYNTHASE, MACROPHAGE;NOS2;NOS2A, INDUCIBLE, HEPATOCYTE	{Hypertension, susceptibility to}, 145500 (2);{Malaria, resistance to}, 611162 (3)
CG7433-PA	137150	NP_000654	4e-157	ABAT;GABAT	GABA TRANSFERASE;GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT	GABA-transaminase deficiency (3)
CG7433-PB	137150	NP_000654	4e-157	ABAT;GABAT	GABA TRANSFERASE;GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT	GABA-transaminase deficiency (3)
CG7433-PA	137150	NP_001120920	4e-157	ABAT;GABAT	GABA TRANSFERASE;GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT	GABA-transaminase deficiency (3)
CG7433-PB	137150	NP_001120920	4e-157	ABAT;GABAT	GABA TRANSFERASE;GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT	GABA-transaminase deficiency (3)
CG7627-PA	601439	NP_005682	4e-157	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG7433-PA	137150	NP_065737	4e-157	ABAT;GABAT	GABA TRANSFERASE;GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT	GABA-transaminase deficiency (3)
CG7433-PB	137150	NP_065737	4e-157	ABAT;GABAT	GABA TRANSFERASE;GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT	GABA-transaminase deficiency (3)
CG18734-PA	162150	NP_000430	5e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG18734-PB	162150	NP_000430	5e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG18734-PC	162150	NP_000430	5e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG2835-PA	139320	NP_536350	5e-157	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG2835-PC	139320	NP_536350	5e-157	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG10772-PE	162150	NP_000430	6e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG7627-PA	601439	NP_064694	7e-157	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG8799-PA	607040	NP_660187	7e-157	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG31092-PB	606945	NP_000518	8e-157	FH;FHC;LDLCQ2;LDLR	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	Hypercholesterolemia, familial, 143890 (3)
CG18734-PD	162150	NP_000430	9e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG18734-PE	162150	NP_000430	9e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG18734-PF	162150	NP_000430	9e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG18734-PG	162150	NP_000430	9e-157	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG10772-PB	162150	NP_000430	1e-156	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG8224-PB	190181	NP_004603	1e-156	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG31092-PA	606945	NP_000518	2e-156	FH;FHC;LDLCQ2;LDLR	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	Hypercholesterolemia, familial, 143890 (3)
CG5009-PA	609751	NP_004026	2e-156	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG5009-PA	609751	NP_009223	2e-156	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG4562-PA	601439	NP_064693	2e-156	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG3454-PA	107930	NP_000781	3e-156	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG3454-PA	107930	NP_001076440	3e-156	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG34157-PC	300377	NP_004006	4e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG8380-PA	604159	NP_004202	4e-156	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG34157-PC	300377	NP_004007	5e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004007	5e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG7399-PA	612349	NP_000268	7e-156	PAH;PKU1		Phenylketonuria, 261600 (3);[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
CG7399-PB	612349	NP_000268	7e-156	PAH;PKU1		Phenylketonuria, 261600 (3);[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
CG34157-PF	300377	NP_004006	7e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004006	7e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004006	7e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PA	300377	NP_004007	7e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PF	300377	NP_004007	7e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG8799-PA	600509	NP_000343	8e-156	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG34157-PA	300377	NP_004006	8e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PG	300377	NP_004007	8e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004006	9e-156	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004007	1e-155	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG6097-PA	607423	NP_001070834	3e-155	POMT1	ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT	Muscular dystrophy, congenital, plus mental retardation, 236670 (3);Muscular dystrophy, limb-girdle, type 2K, 609308 (3);Walker-Warburg syndrome, 236670 (3)
CG34157-PB	300377	NP_004006	3e-155	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PB	300377	NP_004007	3e-155	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG1440-PA	602403	NP_000377	5e-155	BLMH;BMH	BMH	{Alzheimer disease, susceptibility to}, 104300 (3)
CG2835-PB	139320	NP_536350	5e-155	AHO;GNAS;GNAS1;GPSA;PHP1A;PHP1B;POH	GNAS1 GENE, FORMERLY; GNAS1, FORMERLY;GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE	Acromega;McCune-Albright syndrome, 174800 (3);Osseous heteroplasia, progressive, 166350 (3);Pituitary ACTH secreting adenoma, somatic, 219090 (3);Prolonged bleeding time, brachydactyly and mental retardation (3);Pseudohypoparathyroidism Ia, 103580 (3);Pseudohypoparathyroidism Ib, 603233 (3)
CG17927-PI	160777	NP_001135967	6e-155	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG8742-PA	108961	NP_003986	6e-155	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG8742-PB	108961	NP_003986	6e-155	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG8742-PC	108961	NP_003986	6e-155	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG31792-PA	601439	NP_005682	7e-155	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG17927-PI	160777	NP_000250	8e-155	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6638-PA	607036	NP_002216	8e-155	IVD		Isovaleric acidemia, 243500 (3)
CG2845-PB	164757	NP_004324	9e-155	BRAF	BRAF1;ONCOGENE BRAF;RAFB1	Adenocarcinoma of lung, somatic, 211980 (3);Cardiofaciocutaneous syndrome, 115150 (3);Colorectal cancer, somatic (3);Melanoma, melignant, somatic (3);Nonsmall cell lung cancer, somatic (3)
CG11898-PA	607040	NP_115972	9e-155	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG11898-PA	607040	NP_149163	9e-155	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG3671-PA	600266	NP_000569	1e-154	NRAMP1;NRAMP	MEMBER 1; SLC11A1;NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 1; NRAMP1; NRAMP	{Buruli ulcer, susceptibility to}, 610446 (3);{Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)
CG3671-PB	600266	NP_000569	1e-154	NRAMP1;NRAMP	MEMBER 1; SLC11A1;NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 1; NRAMP1; NRAMP	{Buruli ulcer, susceptibility to}, 610446 (3);{Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)
CG34157-PE	300377	NP_004007	1e-154	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG3590-PA	608222	NP_001116850	2e-154	ADSL	ADENYLOSUCCINASE	Adenylosuccinase deficiency, 103050 (3)
CG34157-PE	300377	NP_004006	2e-154	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG18617-PA	604592	NP_006010	3e-154	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG18617-PB	604592	NP_006010	3e-154	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG10295-PA	300142	NP_001121644	4e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PB	300142	NP_001121644	4e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PC	300142	NP_001121644	4e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PA	300142	NP_001121638	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PB	300142	NP_001121638	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PC	300142	NP_001121638	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PA	300142	NP_001121639	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PB	300142	NP_001121639	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PC	300142	NP_001121639	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PA	300142	NP_002569	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PB	300142	NP_002569	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PC	300142	NP_002569	5e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG7507-PB	603339	NP_003768	5e-154	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG8827-PA	106180	NP_690043	5e-154	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG8827-PB	106180	NP_690043	5e-154	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG10295-PA	300142	NP_001121640	6e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PB	300142	NP_001121640	6e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PC	300142	NP_001121640	6e-154	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG17927-PH	160777	NP_000250	1e-153	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2674-PG	610550	NP_000420	1e-153	MAT1A;MATA1;SAMS1	MATA1;S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;SAMS, LIVER-SPECIFIC	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3);Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
CG7779-PA	600053	NP_001073347	1e-153	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG10295-PA	300142	NP_001121645	1e-153	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PB	300142	NP_001121645	1e-153	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG10295-PC	300142	NP_001121645	1e-153	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG17927-PD	160777	NP_001135967	1e-153	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PH	160777	NP_001135967	1e-153	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PD	160777	NP_000250	2e-153	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG8827-PA	106180	NP_000780	2e-153	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG8827-PB	106180	NP_000780	2e-153	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG7779-PA	600053	NP_001289	2e-153	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG6876-PA	606419	NP_056444	4e-153	PRP31;PRPF31;RP11	PRP31	Retinitis pigmentosa-11, 600138 (3)
CG3671-PA	600523	NP_000608	5e-153	NRAMP2	DIVALENT CATION TRANSPORTER 1; DCT1;DIVALENT METAL TRANSPORTER 1; DMT1;MEMBER 2; SLC11A2;NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 2; NRAMP2	Anemia, hypochromic microcytic, 206100 (3)
CG3671-PB	600523	NP_000608	5e-153	NRAMP2	DIVALENT CATION TRANSPORTER 1; DCT1;DIVALENT METAL TRANSPORTER 1; DMT1;MEMBER 2; SLC11A2;NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 2; NRAMP2	Anemia, hypochromic microcytic, 206100 (3)
CG5411-PB	603390	NP_003710	5e-153	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5320-PD	138130	NP_005262	5e-153	GLUD1	GDH;GLUD	Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
CG31793-PA	601439	NP_064693	7e-153	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG5411-PA	603390	NP_003710	8e-153	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5411-PD	603390	NP_003710	8e-153	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5912-PA	600073	NP_004516	8e-153	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG7595-PA	606540	NP_001073936	1e-152	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG7595-PB	606540	NP_001073936	1e-152	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG9122-PA	607478	NP_775489	1e-152	NTPH;TPH2	TRYPTOPHAN HYDROXYLASE, NEURONAL; NTPH	{Unipolar depression, susceptibility to}, 608516 (3)
CG6920-PA	604610	NP_000048	2e-152	BLM;BS;RECQ2;RECQL3	BLM GENE; BLM;DNA HELICASE, RECQ-LIKE, TYPE 2; RECQ2	Bloom syndrome, 210900 (3)
CG9783-PA	600179	NP_000171	2e-152	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG17927-PB	160777	NP_000250	2e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PF	160777	NP_000250	2e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PM	160777	NP_000250	2e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5411-PB	603390	NP_001025024	2e-152	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5411-PD	603390	NP_001025024	2e-152	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG17927-PB	160777	NP_001135967	2e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PM	160777	NP_001135967	2e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6053-PA	605483	NP_075462	2e-152	CILD9;DNAI2		Ciliary dyskinesia, primary, 9, with our without situs inversus, 612444 (3)
CG17927-PA	160777	NP_000250	3e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5411-PA	603390	NP_001025024	3e-152	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG17927-PA	160777	NP_001135967	3e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PF	160777	NP_001135967	3e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG4562-PA	601439	NP_005682	3e-152	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11155-PA	305915	NP_015564	3e-152	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG31792-PA	601439	NP_064694	3e-152	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG31792-PA	607040	NP_660187	4e-152	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG4562-PA	600509	NP_000343	6e-152	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG17927-PE	160777	NP_001135967	8e-152	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PC	160777	NP_000250	1e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PE	160777	NP_000250	1e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG15792-PC	606540	NP_001073936	1e-151	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG31739-PA	610956	NP_060592	1e-151	ASPRS. LBSL;DARS2	ASPARTYL-tRNA SYNTHETASE, MITOCHONDRIAL;MT-ASPRS	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
CG7563-PB	114240	NP_775110	1e-151	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG15792-PD	606540	NP_001073936	2e-151	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG17927-PC	160777	NP_001135967	2e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG3027-PA	606673	NP_057411	2e-151	UPB1;BUP1	BETA-ALANINE SYNTHASE;BUP1	Beta-ureidopropionase deficiency (3)
CG4562-PA	601439	NP_064694	2e-151	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6976-PD	160777	NP_001135967	3e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG31793-PA	601439	NP_005682	3e-151	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6976-PC	160777	NP_000250	4e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6976-PD	160777	NP_000250	4e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6976-PC	160777	NP_001135967	4e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG1732-PA	300036	NP_005620	4e-151	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG7563-PB	114240	NP_997630	4e-151	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG31731-PB	601615	NP_001080	5e-151	ABC3;ABCA3;SMDP3	ABC TRANSPORTER 3;ATP-BINDING CASSETTE 3; ABC3;ATP-BINDING CASSETTE TRANSPORTER 3;CED7, C. ELEGANS, HOMOLOG OF	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
CG10932-PA	607809	NP_000010	6e-151	ACAT1	ACAT;ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL;MITOCHONDRIAL ACETOACETYL-CoA THIOLASE; MAT;T2	Alpha-methylacetoacetic aciduria, 203750 (3)
CG17927-PL	160777	NP_000250	6e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PL	160777	NP_001135967	7e-151	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG12002-PA	606765	NP_000538	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PC	606765	NP_000538	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PD	606765	NP_000538	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PE	606765	NP_000538	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG31793-PA	601439	NP_064694	1e-150	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG12002-PA	606765	NP_783652	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PC	606765	NP_783652	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PD	606765	NP_783652	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PE	606765	NP_783652	1e-150	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG17927-PG	160777	NP_000250	2e-150	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6976-PA	160777	NP_000250	2e-150	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6976-PA	160777	NP_001135967	2e-150	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6976-PB	160777	NP_001135967	2e-150	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6976-PB	160777	NP_000250	3e-150	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PG	160777	NP_001135967	3e-150	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG1743-PB	138290	NP_001028216	7e-150	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG1743-PC	138290	NP_001028216	7e-150	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG1743-PB	138290	NP_001028228	7e-150	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG1743-PC	138290	NP_001028228	7e-150	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG1743-PB	138290	NP_002056	7e-150	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG1743-PC	138290	NP_002056	7e-150	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG9270-PB	600509	NP_000343	9e-150	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG17927-PK	160777	NP_000250	1e-149	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG9270-PA	600509	NP_000343	1e-149	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG4562-PA	603234	NP_001162	1e-149	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG18039-PA	138244	NP_068775	1e-149	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG8177-PE	109270	NP_000333	2e-149	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8177-PK	109270	NP_000333	2e-149	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG17927-PK	160777	NP_001135967	2e-149	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5996-PA	603652	NP_004612	2e-149	FSGS2;TRP6;TRPC6	TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 6; TRP6;TRPC6	Glomerulosclerosis, focal segmental, 2, 603965 (3)
CG5996-PB	603652	NP_004612	2e-149	FSGS2;TRP6;TRPC6	TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 6; TRP6;TRPC6	Glomerulosclerosis, focal segmental, 2, 603965 (3)
CG15792-PD	160777	NP_000250	3e-149	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG8177-PA	109270	NP_000333	3e-149	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8177-PG	109270	NP_000333	3e-149	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG8799-PA	601439	NP_064693	3e-149	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG15792-PC	160777	NP_001135967	4e-149	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG15792-PD	160777	NP_001135967	4e-149	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG12348-PE	176260	NP_000208	5e-149	AEMK;EA1;KCNA1	1; KCNA1;KV1.1;MK1, MOUSE, HOMOLOG OF	Episodic ataxia/myokymia syndrome, 160120 (3)
CG8681-PA	138244	NP_068775	5e-149	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG12348-PC	176260	NP_000208	6e-149	AEMK;EA1;KCNA1	1; KCNA1;KV1.1;MK1, MOUSE, HOMOLOG OF	Episodic ataxia/myokymia syndrome, 160120 (3)
CG15792-PC	160777	NP_000250	6e-149	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG3671-PC	600266	NP_000569	9e-149	NRAMP1;NRAMP	MEMBER 1; SLC11A1;NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 1; NRAMP1; NRAMP	{Buruli ulcer, susceptibility to}, 610446 (3);{Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)
CG8681-PA	138244	NP_786944	1e-148	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG8279-PA	604961	NP_001070826	2e-148	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG5789-PA	607040	NP_660187	2e-148	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG12348-PD	176260	NP_000208	3e-148	AEMK;EA1;KCNA1	1; KCNA1;KV1.1;MK1, MOUSE, HOMOLOG OF	Episodic ataxia/myokymia syndrome, 160120 (3)
CG9433-PB	126340	NP_001124339	3e-148	COFS2;EM9;ERCC2;XPD	DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION;OF; EM9;XPD GENE; XPD	Cerebrooculofacioskeletal syndrome 2, 610756 (3);Trichothiodystrophy, 601675 (3);Xeroderma pigmentosum, group D, 278730 (3)
CG9433-PA	126340	NP_001124339	4e-148	COFS2;EM9;ERCC2;XPD	DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION;OF; EM9;XPD GENE; XPD	Cerebrooculofacioskeletal syndrome 2, 610756 (3);Trichothiodystrophy, 601675 (3);Xeroderma pigmentosum, group D, 278730 (3)
CG12348-PB	176260	NP_000208	5e-148	AEMK;EA1;KCNA1	1; KCNA1;KV1.1;MK1, MOUSE, HOMOLOG OF	Episodic ataxia/myokymia syndrome, 160120 (3)
CG12348-PG	176260	NP_000208	5e-148	AEMK;EA1;KCNA1	1; KCNA1;KV1.1;MK1, MOUSE, HOMOLOG OF	Episodic ataxia/myokymia syndrome, 160120 (3)
CG15117-PA	611499	NP_000172	6e-148	GUSB;MPS7		Mucopolysaccharidosis VII, 253220 (3)
CG15117-PC	611499	NP_000172	6e-148	GUSB;MPS7		Mucopolysaccharidosis VII, 253220 (3)
CG14228-PA	607379	NP_000259	6e-148	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG5411-PE	603390	NP_003710	6e-148	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG7524-PB	190090	NP_005408	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PC	190090	NP_005408	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PD	190090	NP_005408	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PE	190090	NP_005408	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PF	190090	NP_005408	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PB	190090	NP_938033	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PC	190090	NP_938033	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PD	190090	NP_938033	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PE	190090	NP_938033	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG7524-PF	190090	NP_938033	6e-148	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG15117-PB	611499	NP_000172	7e-148	GUSB;MPS7		Mucopolysaccharidosis VII, 253220 (3)
CG10231-PA	604961	NP_001070826	7e-148	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG17927-PJ	160777	NP_000250	1e-147	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG17927-PJ	160777	NP_001135967	1e-147	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2845-PA	164760	NP_002871	1e-147	CRAF;NS5;RAF1	CRAF;ONCOGENE MIL;ONCOGENE RAF1;TRANSFORMING REPLICATION-DEFECTIVE MURINE RETROVIRUS 3611-MSV	LEOPARD syndrome 2, 611554 (3);Noonan syndrome 5, 611553 (3)
CG4908-PA	603647	NP_001073335	2e-147	BCS1L;BJS;FLNMS;GRACILE;PTD		Bjornstad syndrome, 262000 (3);GRACILE syndrome, 603358 (3);Leigh syndrome, 256000 (3);Mitochondrial complex III deficiency, 124000 (3)
CG4908-PB	603647	NP_001073335	2e-147	BCS1L;BJS;FLNMS;GRACILE;PTD		Bjornstad syndrome, 262000 (3);GRACILE syndrome, 603358 (3);Leigh syndrome, 256000 (3);Mitochondrial complex III deficiency, 124000 (3)
CG15792-PA	606540	NP_001073936	2e-147	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG15792-PB	606540	NP_001073936	2e-147	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG17927-PI	606540	NP_001073936	2e-147	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG17927-PM	606540	NP_001073936	2e-147	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG2845-PB	164760	NP_002871	2e-147	CRAF;NS5;RAF1	CRAF;ONCOGENE MIL;ONCOGENE RAF1;TRANSFORMING REPLICATION-DEFECTIVE MURINE RETROVIRUS 3611-MSV	LEOPARD syndrome 2, 611554 (3);Noonan syndrome 5, 611553 (3)
CG4908-PA	603647	NP_004319	2e-147	BCS1L;BJS;FLNMS;GRACILE;PTD		Bjornstad syndrome, 262000 (3);GRACILE syndrome, 603358 (3);Leigh syndrome, 256000 (3);Mitochondrial complex III deficiency, 124000 (3)
CG4908-PB	603647	NP_004319	2e-147	BCS1L;BJS;FLNMS;GRACILE;PTD		Bjornstad syndrome, 262000 (3);GRACILE syndrome, 603358 (3);Leigh syndrome, 256000 (3);Mitochondrial complex III deficiency, 124000 (3)
CG1915-PA	188840	NP_596869	2e-147	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG5411-PE	603390	NP_001025024	3e-147	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG31793-PA	603234	NP_001162	3e-147	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG11155-PA	305915	NP_000819	5e-147	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG5409-PA	102560	NP_001605	5e-147	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG17927-PB	606540	NP_001073936	6e-147	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG1915-PC	188840	NP_596869	7e-147	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG2204-PB	139360	NP_002061	8e-147	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2204-PD	139360	NP_002061	8e-147	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2204-PE	139360	NP_002061	8e-147	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2204-PF	139360	NP_002061	8e-147	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2204-PG	139360	NP_002061	8e-147	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2204-PH	139360	NP_002061	8e-147	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG5409-PA	102630	NP_001092	9e-147	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG3671-PC	600523	NP_000608	1e-146	NRAMP2	DIVALENT CATION TRANSPORTER 1; DCT1;DIVALENT METAL TRANSPORTER 1; DMT1;MEMBER 2; SLC11A2;NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 2; NRAMP2	Anemia, hypochromic microcytic, 206100 (3)
CG3902-PA	600301	NP_001600	1e-146	ACADSB;SBCAD	2-@METHYLBUTYRYL-CoA DEHYDROGENASE;SBCAD	2-methylbutyrylglycinuria, 610006 (3)
CG5501-PE	601478	NP_005370	1e-146	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG6713-PH	163729	NP_000594	2e-146	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG17927-PH	606540	NP_001073936	2e-146	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG7995-PA	300474	NP_001121599	2e-146	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PB	300474	NP_001121599	2e-146	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PC	300474	NP_001121599	2e-146	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PD	300474	NP_001121599	2e-146	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PE	300474	NP_001121599	2e-146	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7461-PA	611103	NP_054768	2e-146	ACAD9		ACAD9 deficiency, 611126 (3)
CG18039-PA	138244	NP_786944	3e-146	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG17927-PD	606540	NP_001073936	4e-146	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG11897-PA	603234	NP_001162	4e-146	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG11897-PB	603234	NP_001162	4e-146	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG11326-PA	188061	NP_003238	6e-146	THBS2	TSP2	{Lumbar disc herniation, susceptibility to}, 603932 (3)
CG17927-PL	606540	NP_001073936	8e-146	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG3322-PA	156225	NP_000417	1e-145	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG6713-PI	163729	NP_000594	1e-145	NOS3	NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary spasms, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3)
CG3322-PA	156225	NP_001073291	1e-145	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG17927-PE	606540	NP_001073936	1e-145	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG1640-PA	138200	NP_005300	1e-145		ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;ALANINE AMINOTRANSFERASE, SOLUBLE;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1	
CG1640-PB	138200	NP_005300	1e-145		ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;ALANINE AMINOTRANSFERASE, SOLUBLE;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1	
CG1640-PC	138200	NP_005300	1e-145		ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;ALANINE AMINOTRANSFERASE, SOLUBLE;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1	
CG1640-PD	138200	NP_005300	1e-145		ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;ALANINE AMINOTRANSFERASE, SOLUBLE;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1	
CG1640-PE	138200	NP_005300	1e-145		ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;ALANINE AMINOTRANSFERASE, SOLUBLE;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1	
CG1640-PF	138200	NP_005300	1e-145		ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;ALANINE AMINOTRANSFERASE, SOLUBLE;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1	
CG7563-PA	114240	NP_775110	1e-145	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG6976-PC	606540	NP_001073936	2e-145	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG6976-PD	606540	NP_001073936	2e-145	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG31731-PA	601615	NP_001080	2e-145	ABC3;ABCA3;SMDP3	ABC TRANSPORTER 3;ATP-BINDING CASSETTE 3; ABC3;ATP-BINDING CASSETTE TRANSPORTER 3;CED7, C. ELEGANS, HOMOLOG OF	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
CG17927-PC	606540	NP_001073936	3e-145	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG4058-PB	600423	NP_001106819	3e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG3682-PA	606102	NP_036530	3e-145	LCCS3;PIP5K1C	PIP5K1-GAMMA	Lethal congenital contractural syndrome 3, 611369 (3)
CG3682-PC	606102	NP_036530	3e-145	LCCS3;PIP5K1C	PIP5K1-GAMMA	Lethal congenital contractural syndrome 3, 611369 (3)
CG15792-PA	160777	NP_000250	4e-145	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG15792-PB	160777	NP_000250	4e-145	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG4058-PA	600423	NP_001106819	4e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG4058-PA	600423	NP_001106820	4e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG17927-PA	606540	NP_001073936	5e-145	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG4058-PA	600423	NP_001106818	5e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG4058-PB	600423	NP_001106820	5e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG15792-PA	160777	NP_001135967	5e-145	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG15792-PB	160777	NP_001135967	5e-145	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG4058-PA	600423	NP_001388	5e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG4058-PB	600423	NP_001388	5e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG8799-PA	601439	NP_005682	5e-145	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG10505-PA	607040	NP_660187	5e-145	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG1732-PA	604159	NP_004202	7e-145	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG4058-PB	600423	NP_001106818	8e-145	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG11796-PA	609695	NP_002141	9e-145	HPD	4-@HYDROXYPHENYLPYRUVIC ACID OXIDASE	Hawkinsinuria, 140350 (3);Tyrosinemia, type III, 276710 (3)
CG17927-PK	606540	NP_001073936	1e-144	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG5423-PA	602431	NP_001122401	1e-144	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG5409-PA	102620	NP_001135417	1e-144	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG1732-PA	300036	NP_001136277	1e-144	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG5409-PA	102620	NP_001604	1e-144	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG5423-PA	602431	NP_002933	1e-144	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG6050-PA	602389	NP_003312	1e-144	COXPD4;EFTU;TUFM	EF-Tu, MITOCHONDRIAL;EF-TuMT;MITOCHONDRIAL TRANSLATION ELONGATION FACTOR Tu	Combined oxidative phosphorylation deficiency 4, 610678 (3)
CG11897-PA	601439	NP_064693	1e-144	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11897-PB	601439	NP_064693	1e-144	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG8799-PA	601439	NP_064694	1e-144	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11897-PA	607040	NP_660187	1e-144	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG11897-PB	607040	NP_660187	1e-144	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG14993-PA	276700	NP_000128	2e-144	FAH	FAH DEFICIENCY;FUMARYLACETOACETASE DEFICIENCY;HEPATORENAL TYROSINEMIA	Tyrosinemia, type I (3)
CG17927-PF	606540	NP_001073936	2e-144	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG17927-PG	606540	NP_001073936	2e-144	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG6976-PA	606540	NP_001073936	2e-144	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG6976-PB	606540	NP_001073936	2e-144	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG11561-PA	601500	NP_005622	2e-144	SMO;SMOH	SMO	Basal cell carcinoma, somatic (3)
CG5789-PA	601439	NP_064693	2e-144	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG8442-PA	138244	NP_068775	2e-144	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG13397-PA	609701	NP_000254	3e-144	NAGLU	N-ACETYL-ALPHA-D-GLUCOSAMINIDASE;N-ACETYL-ALPHA-GLUCOSAMINIDASE	Sanfilippo syndrome, type B, 252920 (3)
CG2146-PA	160745	NP_002465	3e-144	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG1597-PA	601336	NP_006293	3e-144	GCS1		Glucosidase I deficiency, 606056 (3)
CG2146-PA	160745	NP_074035	3e-144	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG8442-PA	138244	NP_786944	3e-144	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG11963-PA	603921	NP_003841	4e-144	SUCLA2	A-BETA;ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT	Mitochondrial DNA depletion syndrome, enceophalomyopathic form, with methylmalonic aciduria, 612073 (3)
CG33092-PA	606811	NP_003739	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PB	606811	NP_003739	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PC	606811	NP_003739	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PF	606811	NP_003739	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PG	606811	NP_003739	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PA	606811	NP_733844	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PB	606811	NP_733844	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PC	606811	NP_733844	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PF	606811	NP_733844	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PG	606811	NP_733844	5e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PD	606811	NP_003739	6e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PE	606811	NP_003739	6e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG2146-PB	160745	NP_074035	6e-144	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG33092-PD	606811	NP_733844	6e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG33092-PE	606811	NP_733844	6e-144	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG9155-PA	276903	NP_001120651	7e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PD	276903	NP_001120651	7e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PD	276903	NP_001120652	7e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG2146-PB	160745	NP_002465	7e-144	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PB	276903	NP_001120651	8e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PC	276903	NP_001120651	8e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG3682-PB	606102	NP_036530	8e-144	LCCS3;PIP5K1C	PIP5K1-GAMMA	Lethal congenital contractural syndrome 3, 611369 (3)
CG9155-PB	276903	NP_000251	9e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PC	276903	NP_000251	9e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PA	276903	NP_001120652	9e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PB	276903	NP_001120652	9e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PC	276903	NP_001120652	9e-144	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5409-PA	102540	NP_005150	9e-144	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG9155-PA	276903	NP_000251	1e-143	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PD	276903	NP_000251	1e-143	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG10535-PA	603722	NP_003631	1e-143	IKAP;IKBKAP	COMPLEX-ASSOCIATED PROTEIN; IKBKAP;ELP1, YEAST, HOMOLOG OF; ELP1;IKK COMPLEX-ASSOCIATED PROTEIN; IKAP	Dysautonomia, familial, 223900 (3)
CG3733-PA	608892	NP_060250	1e-143	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG2146-PC	160745	NP_074035	1e-143	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG2146-PA	160745	NP_001035202	2e-143	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG2146-PA	160745	NP_001035203	2e-143	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG2146-PC	160745	NP_002465	2e-143	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG14991-PA	607900	NP_060141	2e-143	C20orf42;KIND1;URP1	CHROMOSOME 20 OPEN READING FRAME 42; C20ORF42;KINDLERIN;KINDLIN 1; KIND1;UNC112-RELATED PROTEIN 1; URP1	Kindler syndrome, 173650 (3)
CG14991-PB	607900	NP_060141	2e-143	C20orf42;KIND1;URP1	CHROMOSOME 20 OPEN READING FRAME 42; C20ORF42;KINDLERIN;KINDLIN 1; KIND1;UNC112-RELATED PROTEIN 1; URP1	Kindler syndrome, 173650 (3)
CG2146-PB	160745	NP_001035203	3e-143	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5409-PA	102610	NP_001091	3e-143	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG9594-PA	608892	NP_060250	3e-143	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG2146-PB	160745	NP_001035202	4e-143	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG1411-PA	222748	NP_001376	4e-143	DPYS;DHP		Dihydropyrimidinuria (3)
CG9333-PA	611177	NP_065851	5e-143	ATD2;IFT80;KIAA1374;WDR56	KIAA1374;WD REPEAT-CONTAINING PROTEIN 56; WDR56	Asphyxiating thoracic dystrophy 2, 611263 (3)
CG6535-PB	607585	NP_612149	6e-143	AT1;ATA;ATM		Ataxia-telangiectasia, 208900 (3);Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell (3);T-cell prolymphocytic leukemia, sporadic (3);{Breast cancer, susceptibility to}, 114480 (3)
CG7995-PA	300474	NP_000158	7e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PB	300474	NP_000158	7e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PC	300474	NP_000158	7e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PD	300474	NP_000158	7e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PE	300474	NP_000158	7e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG2146-PC	160745	NP_001035202	7e-143	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5501-PB	601478	NP_005370	7e-143	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG10501-PA	107930	NP_000781	8e-143	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG10501-PA	107930	NP_001076440	8e-143	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG7995-PA	300474	NP_976325	8e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PB	300474	NP_976325	8e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PC	300474	NP_976325	8e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PD	300474	NP_976325	8e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7995-PE	300474	NP_976325	8e-143	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG1451-PA	611731	NP_000029	9e-143	APC;BTPS2;FPC;GS	DELETED IN POLYPOSIS 2.5; DP2.5	Adenoma, periampullary (3);Adenomatous polyposis coli, 175100 (3);Brain tumor-polyposis syndrome 2 (3);Colorectal cancer, somatic, 114500 (3);Desmoid disease, hereditary, 135290 (3);Gardner syndrome (3);Gastric cancer, somatic, 137215 (3);Hepatoblastoma (3)
CG6535-PB	607585	NP_000042	9e-143	AT1;ATA;ATM		Ataxia-telangiectasia, 208900 (3);Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell (3);T-cell prolymphocytic leukemia, sporadic (3);{Breast cancer, susceptibility to}, 114480 (3)
CG1451-PA	611731	NP_001120982	9e-143	APC;BTPS2;FPC;GS	DELETED IN POLYPOSIS 2.5; DP2.5	Adenoma, periampullary (3);Adenomatous polyposis coli, 175100 (3);Brain tumor-polyposis syndrome 2 (3);Colorectal cancer, somatic, 114500 (3);Desmoid disease, hereditary, 135290 (3);Gardner syndrome (3);Gastric cancer, somatic, 137215 (3);Hepatoblastoma (3)
CG1451-PA	611731	NP_001120983	9e-143	APC;BTPS2;FPC;GS	DELETED IN POLYPOSIS 2.5; DP2.5	Adenoma, periampullary (3);Adenomatous polyposis coli, 175100 (3);Brain tumor-polyposis syndrome 2 (3);Colorectal cancer, somatic, 114500 (3);Desmoid disease, hereditary, 135290 (3);Gardner syndrome (3);Gastric cancer, somatic, 137215 (3);Hepatoblastoma (3)
CG2146-PC	160745	NP_001035203	1e-142	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG8975-PA	604712	NP_056528	1e-142	P53R2;RRM2B	p53-INDUCIBLE AND RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE;RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE, p53-INDUCIBLE; P53R2	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, 612075 (3)
CG32300-PB	608124	NP_071449	1e-142	XYLT1;XT1	UDP-D-XYLOSE:PROTEOGLYCAN CORE PROTEIN BETA-D-XYLOSYLTRANSFERASE 1;XT1	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
CG17927-PJ	606540	NP_001073936	2e-142	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG9270-PA	603234	NP_001162	2e-142	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG9270-PB	603234	NP_001162	2e-142	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG12582-PA	609489	NP_005899	2e-142	MANB1;MANBA	MANB1;MANNANASE;MANNASE	Mannosidosis, beta, 248510 (3)
CG30445-PA	107930	NP_000781	3e-142	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG30445-PA	107930	NP_001076440	3e-142	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG7595-PA	160775	NP_002464	3e-142	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG7595-PB	160775	NP_002464	3e-142	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG9313-PA	604366	NP_036276	3e-142	CILD1;DNAI1;ICS;PCD		Ciliary dyskinesia, primary, 1, with our without situs inversus, 244400 (3)
CG7563-PA	114240	NP_000061	4e-142	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG10505-PA	601439	NP_064693	5e-142	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG7563-PA	114240	NP_077320	5e-142	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG5663-PA	170100	NP_000276	6e-142	PEPD	IMIDODIPEPTIDASE;PROLIDASE	Prolidase deficiency (3)
CG12002-PA	131399	NP_000493	6e-142	EPX		Eosinophil peroxidase deficiency, 261500 (3)
CG12002-PC	131399	NP_000493	6e-142	EPX		Eosinophil peroxidase deficiency, 261500 (3)
CG12002-PD	131399	NP_000493	6e-142	EPX		Eosinophil peroxidase deficiency, 261500 (3)
CG12002-PE	131399	NP_000493	6e-142	EPX		Eosinophil peroxidase deficiency, 261500 (3)
CG8103-PA	608892	NP_060250	6e-142	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG14228-PA	607379	NP_057502	7e-142	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG8103-PB	608892	NP_060250	7e-142	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG14228-PA	607379	NP_861546	7e-142	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG14228-PA	607379	NP_861970	7e-142	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG14709-PA	603234	NP_001162	9e-142	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG5789-PA	601439	NP_005682	9e-142	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG1753-PA	236200	NP_000062	1e-141	CBS	CBS DEFICIENCY;CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	Homocystinuria, B6-responsive and nonresponsive types (3);Thrombosis, hyperhomocysteinemic (3)
CG1753-PB	236200	NP_000062	1e-141	CBS	CBS DEFICIENCY;CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	Homocystinuria, B6-responsive and nonresponsive types (3);Thrombosis, hyperhomocysteinemic (3)
CG12002-PA	606989	NP_000241	1e-141	MPO		Myeloperoxidase deficiency, 254600 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Lung cancer, protection against, in smokers} (3)
CG12002-PC	606989	NP_000241	1e-141	MPO		Myeloperoxidase deficiency, 254600 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Lung cancer, protection against, in smokers} (3)
CG12002-PD	606989	NP_000241	1e-141	MPO		Myeloperoxidase deficiency, 254600 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Lung cancer, protection against, in smokers} (3)
CG12002-PE	606989	NP_000241	1e-141	MPO		Myeloperoxidase deficiency, 254600 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Lung cancer, protection against, in smokers} (3)
CG3936-PA	612424	NP_001136272	1e-141	EYS;RP25	SPACEMAKER; SPAM	Retinitis pigmentosa-25, 602772 (3)
CG2146-PA	160720	NP_002461	1e-141	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG11897-PA	601439	NP_005682	1e-141	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11897-PB	601439	NP_005682	1e-141	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG5789-PA	601439	NP_064694	1e-141	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG8529-PC	601239	NP_116757	1e-141	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG6320-PC	600003	NP_963884	1e-141	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PD	600003	NP_963884	1e-141	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG9510-PA	608310	NP_000039	2e-141	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG9510-PB	608310	NP_000039	2e-141	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG9510-PA	608310	NP_001020114	2e-141	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG9510-PB	608310	NP_001020114	2e-141	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG5411-PA	603390	NP_001025025	2e-141	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5411-PB	603390	NP_001025025	2e-141	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG6512-PA	602783	NP_003110	2e-141	CAR;CMAR;PGN;SPG7	CELL ADHESION REGULATOR; CAR;CELL MATRIX ADHESION REGULATOR; CMAR;PARAPLEGIN; PGN	Spastic paraplegia-7, 607259 (3)
CG5501-PD	601478	NP_005370	2e-141	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9961-PA	311800	NP_000282	3e-141	PGK1;PGKA	3-@PHOSPHOGLYCEROKINASE;PGKA	Phosphoglycerate kinase 1 deficiency, 300653 (3)
CG5411-PD	603390	NP_001025025	3e-141	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5345-PA	607657	NP_001893	3e-141	CTH	CYSTATHIONASE	Cystathioninuria, 219500 (3);Homocysteine, total plasma, elevated (3)
CG6512-PB	602783	NP_003110	3e-141	CAR;CMAR;PGN;SPG7	CELL ADHESION REGULATOR; CAR;CELL MATRIX ADHESION REGULATOR; CMAR;PARAPLEGIN; PGN	Spastic paraplegia-7, 607259 (3)
CG5226-PA	608893	NP_001003841	4e-141	HND;SLC6A19	SLC6A19;SYSTEM B(0) NEUTRAL AMINO ACID TRANSPORTER 1	Hartnup disorder, 234500 (3)
CG11328-PB	300231	NP_001036002	4e-141	NHE6;SLC9A6	SODIUM/HYDROGEN EXCHANGER 6; NHE6	Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
CG6975-PA	191092	NP_001070651	4e-141	LAM;TSC2	TSC4 GENE, FORMERLY; TSC4, FORMERLY;TUBERIN	Lymphangioleiomyomatosis, somatic, 606690 (3);Tuberous sclerosis-2, 191100 (3)
CG2146-PB	160720	NP_002461	4e-141	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG8224-PA	601300	NP_004293	4e-141	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG2146-PA	276903	NP_001120651	6e-141	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PD	160760	NP_000248	7e-141	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG2146-PA	160775	NP_002464	7e-141	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG2146-PA	160740	NP_001093582	8e-141	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG2146-PB	276903	NP_001120651	8e-141	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG2146-PA	160740	NP_060004	8e-141	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG31201-PB	138244	NP_068775	8e-141	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG8529-PC	601239	NP_001381	9e-141	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG6976-PC	160760	NP_000248	1e-140	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG2146-PC	276903	NP_001120651	1e-140	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG12348-PE	176267	NP_002225	1e-140	KCNA5;ATFB7	5; KCNA5;HCK1;HK2;POTASSIUM CHANNEL 1; PCN1;POTASSIUM CHANNEL, INSULINOMA AND ISLET CELL	Atrial fibrillation, familial, 7, 612240 (3)
CG6976-PD	160710	NP_002462	1e-140	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG2146-PB	160775	NP_002464	1e-140	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG4545-PA	604159	NP_004202	1e-140	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG7595-PA	601478	NP_005370	1e-140	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG7595-PB	601478	NP_005370	1e-140	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9981-PA	602397	NP_005594	1e-140	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG8529-PD	601239	NP_116757	1e-140	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PE	601239	NP_116757	1e-140	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG7595-PA	160760	NP_000248	2e-140	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG7595-PB	160760	NP_000248	2e-140	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG2146-PC	160740	NP_001093582	2e-140	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG2174-PA	160777	NP_001135967	2e-140	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG12348-PC	176267	NP_002225	2e-140	KCNA5;ATFB7	5; KCNA5;HCK1;HK2;POTASSIUM CHANNEL 1; PCN1;POTASSIUM CHANNEL, INSULINOMA AND ISLET CELL	Atrial fibrillation, familial, 7, 612240 (3)
CG2146-PC	160720	NP_002461	2e-140	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG2146-PC	160740	NP_060004	2e-140	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG13521-PA	608630	NP_071765	2e-140	HGPPS;RBIG1;RIG1;ROBO3	RB-INHIBITING GENE 1; RBIG1; RIG1	Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
CG6320-PC	600003	NP_963890	2e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG32092-PB	602997	NP_001072	3e-140	CUBN;IFCR;MGA1	INTRINSIC FACTOR-COBALAMIN RECEPTOR; IFCR	Megaloblastic anemia-1, Finnish type, 261100 (3)
CG6976-PC	160710	NP_002462	3e-140	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG13521-PB	608630	NP_071765	3e-140	HGPPS;RBIG1;RIG1;ROBO3	RB-INHIBITING GENE 1; RBIG1; RIG1	Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
CG8529-PA	601239	NP_116757	3e-140	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PB	601239	NP_116757	3e-140	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG6320-PD	600003	NP_963890	3e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG18374-PB	300474	NP_000158	4e-140	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG2174-PA	160777	NP_000250	4e-140	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG8199-PA	608348	NP_000700	4e-140	BCKDHA;MSUD1	BCKD, E1-ALPHA SUBUNIT; BCKDE1A	Maple syrup urine disease, type Ia, 248600 (3)
CG2146-PB	160740	NP_001093582	4e-140	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG2146-PB	276903	NP_001120652	4e-140	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG18374-PB	300474	NP_001121599	4e-140	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG2204-PA	139360	NP_002061	4e-140	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2204-PC	139360	NP_002061	4e-140	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2204-PI	139360	NP_002061	4e-140	GIP;GNAI2;GNAI2B	2; GNAI2;G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, 192605 (3)
CG2146-PC	160775	NP_002464	4e-140	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG2146-PB	160740	NP_060004	4e-140	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG31201-PB	138244	NP_786944	4e-140	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG6320-PD	600003	NP_963865	4e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG2146-PB	276903	NP_000251	5e-140	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG4675-PA	109270	NP_000333	5e-140	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG11876-PA	179060	NP_000916	5e-140	PDHB	E1, BETA POLYPEPTIDE; PHE1B	Pyruvate dehydrogenase E1-beta deficiency (3)
CG11876-PD	179060	NP_000916	5e-140	PDHB	E1, BETA POLYPEPTIDE; PHE1B	Pyruvate dehydrogenase E1-beta deficiency (3)
CG2174-PB	160777	NP_001135967	5e-140	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6320-PC	600003	NP_963864	5e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG2174-PB	160777	NP_000250	6e-140	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6320-PC	600003	NP_000715	6e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PD	600003	NP_000715	6e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PA	601949	NP_000717	6e-140	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG6320-PA	601949	NP_001005746	6e-140	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG6320-PD	600003	NP_963864	6e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG4675-PB	109270	NP_000333	7e-140	AE1;EPB3;SLC4A1	ANION EXCHANGE PROTEIN 1; AE1;BAND 3 OF RED CELL MEMBRANE; BND3;ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;ERYTHROID PROTEIN BAND 3; EPB3	Ovalocytosis (3);Renal tubular acidosis, distal, AD, 179800 (3);Renal tubular acidosis, distal, AR, 611590 (3);Spherocytosis, type 4, 612653 (3);[Blood group, Diego], 110500 (3);[Blood group, Froese], 601551;[Blood group, Waldner], 112010 (3);[Blood group, Wright], 112050 (3);[Malaria, resistance to], 611162 (3)
CG11328-PA	300231	NP_001036002	7e-140	NHE6;SLC9A6	SODIUM/HYDROGEN EXCHANGER 6; NHE6	Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
CG6320-PC	600003	NP_963865	7e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PA	600003	NP_963890	7e-140	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG8529-PE	601239	NP_001381	9e-140	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG2146-PA	276903	NP_001120652	1e-139	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG2146-PC	276903	NP_001120652	1e-139	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG8529-PA	601239	NP_001381	1e-139	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PB	601239	NP_001381	1e-139	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PD	601239	NP_001381	1e-139	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG7595-PA	160710	NP_002462	1e-139	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG7595-PB	160710	NP_002462	1e-139	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG10524-PA	605437	NP_006246	1e-139	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG6320-PA	600003	NP_963865	1e-139	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG11482-PA	120436	NP_000240	2e-139	COCA2;HNPCC2;MLH1		Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3)
CG2146-PA	276903	NP_000251	2e-139	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG2146-PC	276903	NP_000251	2e-139	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG1064-PA	601607	NP_001007469	2e-139	INI1;RDT;SMARCB1;SNF5	INTEGRASE INTERACTOR 1; INI1;MALIGNANT RHABDOID TUMOR SUPPRESSOR;SNF5, YEAST, HOMOLOG OF; SNF5;SUBFAMILY B, MEMBER 1; SMARCB1	Rhabdoid predisposition syndrome, familial (3);Rhabdoid tumors (3)
CG2174-PB	606540	NP_001073936	2e-139	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG15792-PD	276903	NP_001120651	2e-139	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG12348-PB	176267	NP_002225	2e-139	KCNA5;ATFB7	5; KCNA5;HCK1;HK2;POTASSIUM CHANNEL 1; PCN1;POTASSIUM CHANNEL, INSULINOMA AND ISLET CELL	Atrial fibrillation, familial, 7, 612240 (3)
CG12348-PD	176267	NP_002225	2e-139	KCNA5;ATFB7	5; KCNA5;HCK1;HK2;POTASSIUM CHANNEL 1; PCN1;POTASSIUM CHANNEL, INSULINOMA AND ISLET CELL	Atrial fibrillation, familial, 7, 612240 (3)
CG12348-PG	176267	NP_002225	2e-139	KCNA5;ATFB7	5; KCNA5;HCK1;HK2;POTASSIUM CHANNEL 1; PCN1;POTASSIUM CHANNEL, INSULINOMA AND ISLET CELL	Atrial fibrillation, familial, 7, 612240 (3)
CG2146-PA	160741	NP_002463	2e-139	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG31094-PB	602600	NP_004622	2e-139	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG9935-PC	305915	NP_015564	2e-139	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG11897-PA	601439	NP_064694	2e-139	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11897-PB	601439	NP_064694	2e-139	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG3132-PA	611458	NP_000395	3e-139	GLB1	BETA-GALACTOSIDASE-1	GM1-gangliosidosis, type I, 230500 (3);GM1-gangliosidosis, type II, 230600 (3);GM1-gangliosidosis, type III, 230650 (3);Morquio syndrome B, 253010 (3)
CG31094-PB	602600	NP_001018064	3e-139	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG2174-PA	606540	NP_001073936	3e-139	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG15792-PC	276903	NP_001120651	3e-139	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6097-PA	607423	NP_001129586	3e-139	POMT1	ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT	Muscular dystrophy, congenital, plus mental retardation, 236670 (3);Muscular dystrophy, limb-girdle, type 2K, 609308 (3);Walker-Warburg syndrome, 236670 (3)
CG3322-PA	150292	NP_005553	3e-139	LAMC2;LAMNB2;LAMB2T	KALININ;LAM5, GAMMA-2 SUBUNIT;LAMB2, TRUNCATED; LAMB2T;LAMININ 5, GAMMA-2 SUBUNIT;LAMININ B2 POLYPEPTIDE, TRUNCATED;LAMININ, NICEIN, BETA-2; LAMNB2	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
CG8948-PA	605370	NP_055886	3e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PB	605370	NP_055886	3e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PC	605370	NP_055886	3e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PD	605370	NP_055886	3e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PE	605370	NP_055886	3e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PF	605370	NP_055886	3e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG9887-PA	607557	NP_647480	3e-139	DFNA25;SLC17A8;VGLUT3	8; SLC17A8;VESICULAR GLUTAMATE TRANSPORTER 3; VGLUT3	Deafness, autosomal dominant 25, 605583 (3)
CG18374-PB	300474	NP_976325	3e-139	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG6976-PA	160760	NP_000248	4e-139	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG6976-PB	160760	NP_000248	4e-139	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG8948-PA	605370	NP_001129080	4e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PB	605370	NP_001129080	4e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PC	605370	NP_001129080	4e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PD	605370	NP_001129080	4e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PE	605370	NP_001129080	4e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG8948-PF	605370	NP_001129080	4e-139	ARHGAP26;GRAF	GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;KIAA0621	Leukemia, juvenile myelomonocytic, 607785 (3)
CG6976-PA	160710	NP_002462	4e-139	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG10505-PA	601439	NP_005682	4e-139	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG2146-PA	160710	NP_002462	5e-139	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG6976-PB	160710	NP_002462	5e-139	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG7595-PA	160745	NP_002465	5e-139	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7595-PB	160745	NP_002465	5e-139	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7757-PA	607301	NP_004689	5e-139	HPRP3;RP18	HPRP3;PRP3	Retinitis pigmentosa-18, 601414 (3)
CG7595-PA	160745	NP_074035	5e-139	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7595-PB	160745	NP_074035	5e-139	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6320-PA	600003	NP_963864	5e-139	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG8224-PA	190181	NP_001124388	6e-139	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG31792-PA	603234	NP_001162	6e-139	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG8799-PA	603234	NP_001162	6e-139	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6320-PA	600003	NP_963884	6e-139	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PA	601949	NP_001005747	7e-139	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG6320-PA	600003	NP_000715	8e-139	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG3322-PA	150292	NP_061486	8e-139	LAMC2;LAMNB2;LAMB2T	KALININ;LAM5, GAMMA-2 SUBUNIT;LAMB2, TRUNCATED; LAMB2T;LAMININ 5, GAMMA-2 SUBUNIT;LAMININ B2 POLYPEPTIDE, TRUNCATED;LAMININ, NICEIN, BETA-2; LAMNB2	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
CG11898-PA	607040	NP_660187	8e-139	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG1560-PA	173470	NP_000203	9e-139	GP3A;ITGB3	CD61;GP IIIa;PLATELET FIBRINOGEN RECEPTOR, BETA SUBUNIT;PLATELET GLYCOPROTEIN IIIa; GP3A	Glanzmann thrombasthenia, type B (3)
CG9935-PB	305915	NP_015564	9e-139	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG2146-PA	160760	NP_000248	1e-138	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG2146-PB	160741	NP_002463	1e-138	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG7794-PA	602529	NP_006000	1e-138	LIS3;TUBA1A;TUBA3	B-ALPHA-1;TUBA3;TUBULIN, ALPHA, BRAIN-SPECIFIC	Lissencephaly 3, 611603 (3)
CG7052-PA	103950	NP_000005	2e-138	A2M	MACROGLOBULIN, ALPHA-2	Emphysema due to alpha-2-macroglobulin deficiency (1);{Alzheimer disease, susceptibility to}, 104300 (3)
CG8049-PA	300300	NP_000052	2e-138	AGMX1;AT;BTK;IMD1;XLA	AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK;B-CELL PROGENITOR KINASE; BPK	Agammaglobulinemia and isolated hormone deficiency, 307200 (3);Agammaglobulinemia, type 1, X-linked, 300755 (3)
CG8049-PC	300300	NP_000052	2e-138	AGMX1;AT;BTK;IMD1;XLA	AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK;B-CELL PROGENITOR KINASE; BPK	Agammaglobulinemia and isolated hormone deficiency, 307200 (3);Agammaglobulinemia, type 1, X-linked, 300755 (3)
CG6320-PC	601949	NP_000717	2e-138	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG6320-PC	601949	NP_001005746	2e-138	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG7595-PA	160745	NP_001035202	2e-138	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7595-PB	160745	NP_001035202	2e-138	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG3132-PA	611458	NP_001073279	2e-138	GLB1	BETA-GALACTOSIDASE-1	GM1-gangliosidosis, type I, 230500 (3);GM1-gangliosidosis, type II, 230600 (3);GM1-gangliosidosis, type III, 230650 (3);Morquio syndrome B, 253010 (3)
CG2146-PB	160710	NP_002462	2e-138	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG1064-PA	601607	NP_003064	2e-138	INI1;RDT;SMARCB1;SNF5	INTEGRASE INTERACTOR 1; INI1;MALIGNANT RHABDOID TUMOR SUPPRESSOR;SNF5, YEAST, HOMOLOG OF; SNF5;SUBFAMILY B, MEMBER 1; SMARCB1	Rhabdoid predisposition syndrome, familial (3);Rhabdoid tumors (3)
CG6355-PA	609414	NP_055855	2e-138	CFD;PIP5K3	FAB1, S. CEREVISIAE, HOMOLOG OF; FAB1;KIAA0981	Corneal fleck dystrophy, 121850 (3)
CG6355-PB	609414	NP_055855	2e-138	CFD;PIP5K3	FAB1, S. CEREVISIAE, HOMOLOG OF; FAB1;KIAA0981	Corneal fleck dystrophy, 121850 (3)
CG1417-PA	606810	NP_057419	2e-138	PRODH;PRODH2;SCZD4	PROLINE DEHYDROGENASE 1; PRODH1;PROLINE OXIDASE 1; POX	Hyperprolinemia, type I, 239500 (3);{Schizophrenia, susceptibility to, 4}, 600850 (3)
CG1417-PF	606810	NP_057419	2e-138	PRODH;PRODH2;SCZD4	PROLINE DEHYDROGENASE 1; PRODH1;PROLINE OXIDASE 1; POX	Hyperprolinemia, type I, 239500 (3);{Schizophrenia, susceptibility to, 4}, 600850 (3)
CG1417-PG	606810	NP_057419	2e-138	PRODH;PRODH2;SCZD4	PROLINE DEHYDROGENASE 1; PRODH1;PROLINE OXIDASE 1; POX	Hyperprolinemia, type I, 239500 (3);{Schizophrenia, susceptibility to, 4}, 600850 (3)
CG1417-PH	606810	NP_057419	2e-138	PRODH;PRODH2;SCZD4	PROLINE DEHYDROGENASE 1; PRODH1;PROLINE OXIDASE 1; POX	Hyperprolinemia, type I, 239500 (3);{Schizophrenia, susceptibility to, 4}, 600850 (3)
CG9155-PA	160777	NP_000250	3e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG9155-PD	160777	NP_000250	3e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6320-PD	601949	NP_000717	3e-138	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG6320-PD	601949	NP_001005746	3e-138	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG7595-PA	160745	NP_001035203	3e-138	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7595-PB	160745	NP_001035203	3e-138	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG1891-PA	102576	NP_001096	3e-138	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG1891-PB	102576	NP_001096	3e-138	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG1891-PA	102576	NP_001104537	3e-138	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG1891-PB	102576	NP_001104537	3e-138	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG8224-PB	190181	NP_001124388	3e-138	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG9155-PB	160777	NP_001135967	3e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG9155-PC	160777	NP_001135967	3e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG9155-PD	160777	NP_001135967	3e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6320-PC	601949	NP_001005747	4e-138	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG1732-PA	126455	NP_001035	4e-138	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG2146-PC	160710	NP_002462	4e-138	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG2146-PB	160760	NP_000248	5e-138	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG9155-PB	160777	NP_000250	5e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG9155-PC	160777	NP_000250	5e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6320-PD	601949	NP_001005747	5e-138	CACNB4;EA5;EJM		Epilepsy, generalized idiopathic, 600669 (3);Epilepsy, juvenile myoclonic, 606904 (3);Episodic ataxia, type 5 (3)
CG9155-PA	160777	NP_001135967	5e-138	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG8049-PB	300300	NP_000052	6e-138	AGMX1;AT;BTK;IMD1;XLA	AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK;B-CELL PROGENITOR KINASE; BPK	Agammaglobulinemia and isolated hormone deficiency, 307200 (3);Agammaglobulinemia, type 1, X-linked, 300755 (3)
CG8049-PD	300300	NP_000052	6e-138	AGMX1;AT;BTK;IMD1;XLA	AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK;B-CELL PROGENITOR KINASE; BPK	Agammaglobulinemia and isolated hormone deficiency, 307200 (3);Agammaglobulinemia, type 1, X-linked, 300755 (3)
CG31094-PA	602600	NP_001018064	6e-138	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG31094-PA	602600	NP_004622	7e-138	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG9935-PA	138244	NP_068775	7e-138	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG10060-PA	139340	NP_005263	8e-138	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG9155-PA	602666	NP_057323	8e-138	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG9155-PB	602666	NP_057323	8e-138	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG9155-PC	602666	NP_057323	8e-138	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG2146-PC	160760	NP_000248	1e-137	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG7002-PA	193400	NP_000543	1e-137	F8VWF;VWF	VON WILLEBRAND FACTOR DEFICIENCY;VWD	von Willebrand disease, autosomal dominant (3);von Willebrand disease, autosomal recessive, 277480 (3)
CG15792-PD	276903	NP_001120652	1e-137	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG2146-PC	160741	NP_002463	1e-137	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG1417-PB	606810	NP_057419	1e-137	PRODH;PRODH2;SCZD4	PROLINE DEHYDROGENASE 1; PRODH1;PROLINE OXIDASE 1; POX	Hyperprolinemia, type I, 239500 (3);{Schizophrenia, susceptibility to, 4}, 600850 (3)
CG6976-PC	606808	NP_059129	1e-137	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG6976-PD	606808	NP_059129	1e-137	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG17988-PB	106180	NP_690043	1e-137	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG9935-PA	138244	NP_786944	1e-137	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG15792-PC	276903	NP_001120652	2e-137	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PD	602666	NP_057323	2e-137	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG15792-PD	276903	NP_000251	3e-137	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17988-PB	106180	NP_000780	3e-137	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG10505-PA	603234	NP_001162	3e-137	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG10353-PB	608662	NP_001136121	4e-137	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG3263-PD	188830	NP_002725	4e-137	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PE	188830	NP_002725	4e-137	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG1417-PE	606810	NP_057419	4e-137	PRODH;PRODH2;SCZD4	PROLINE DEHYDROGENASE 1; PRODH1;PROLINE OXIDASE 1; POX	Hyperprolinemia, type I, 239500 (3);{Schizophrenia, susceptibility to, 4}, 600850 (3)
CG10505-PA	601439	NP_064694	4e-137	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG3263-PD	188830	NP_997636	4e-137	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PE	188830	NP_997636	4e-137	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PD	188830	NP_997637	4e-137	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PE	188830	NP_997637	4e-137	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG15792-PC	276903	NP_000251	5e-137	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7757-PB	607301	NP_004689	5e-137	HPRP3;RP18	HPRP3;PRP3	Retinitis pigmentosa-18, 601414 (3)
CG10353-PB	608662	NP_998764	5e-137	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG1732-PA	163970	NP_001034	6e-137	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG10353-PA	608662	NP_998764	6e-137	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG6058-PH	103850	NP_000025	7e-137	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PH	103850	NP_001121089	7e-137	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG10353-PA	608662	NP_001136121	7e-137	GDD1;TMEM16E	GDD1 GENE; GDD1	Gnthodiaphyseal dysplasia, 166260 (3)
CG8224-PB	601300	NP_004293	7e-137	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG6058-PH	103850	NP_908930	7e-137	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PH	103850	NP_908932	7e-137	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG34157-PE	300377	NP_004014	1e-136	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG6976-PA	606808	NP_059129	1e-136	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG6976-PB	606808	NP_059129	1e-136	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG2146-PB	608568	NP_079005	1e-136	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG12455-PB	608171	NP_758952	1e-136	CACNA2D4;RCD4		Retinal cone dystrophy 4, 610478 (3)
CG5411-PE	603390	NP_001025025	2e-136	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG9761-PA	600423	NP_001106818	2e-136	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG9761-PA	600423	NP_001106819	2e-136	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG9761-PA	600423	NP_001106820	2e-136	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG9761-PA	600423	NP_001388	2e-136	ECE1	ECE;HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION,	Hirschsprung disease, cardiac defects, and autonomic dysfunction (3);{Hypertension, essential, susceptibility to}, 145500 (3)
CG1417-PD	606810	NP_057419	2e-136	PRODH;PRODH2;SCZD4	PROLINE DEHYDROGENASE 1; PRODH1;PROLINE OXIDASE 1; POX	Hyperprolinemia, type I, 239500 (3);{Schizophrenia, susceptibility to, 4}, 600850 (3)
CG2146-PA	608568	NP_079005	2e-136	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5658-PA	605995	NP_904325	2e-136	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG7964-PA	154270	NP_002387	3e-136	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG7964-PC	154270	NP_002387	3e-136	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG3263-PB	188830	NP_002725	3e-136	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PF	188830	NP_002725	3e-136	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG31094-PB	600073	NP_004516	3e-136	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG3263-PB	188830	NP_997636	3e-136	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PF	188830	NP_997636	3e-136	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PB	188830	NP_997637	3e-136	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG3263-PF	188830	NP_997637	3e-136	CAR;CNC1;PPNAD1;PRKAR1A;TSE1	TISSUE-SPECIFIC EXTINGUISHER 1; TSE1	Adrenocortical tumor, somatic (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented adrenocortical disease, primary, 1, 610489 (3);Thyroid carcinoma, papillary, 188550 (3)
CG7438-PA	276903	NP_001120651	5e-136	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7438-PB	276903	NP_001120651	5e-136	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7438-PA	276903	NP_001120652	5e-136	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7438-PB	276903	NP_001120652	5e-136	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG14026-PC	603248	NP_001194	5e-136	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG7438-PA	276903	NP_000251	7e-136	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7438-PB	276903	NP_000251	7e-136	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG2146-PB	608568	NP_001070654	7e-136	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG31092-PA	602600	NP_004622	7e-136	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG31092-PA	602600	NP_001018064	9e-136	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG2718-PB	138290	NP_001028216	9e-136	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG2718-PC	138290	NP_001028216	9e-136	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG2718-PB	138290	NP_001028228	9e-136	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG2718-PC	138290	NP_001028228	9e-136	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG2718-PB	138290	NP_002056	9e-136	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG2718-PC	138290	NP_002056	9e-136	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG2146-PC	608568	NP_079005	9e-136	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG2146-PA	608568	NP_001070654	1e-135	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG14026-PA	603248	NP_001194	1e-135	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG14026-PB	603248	NP_001194	1e-135	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG6976-PD	160720	NP_002461	1e-135	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG10593-PA	106180	NP_690043	1e-135	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG10593-PA	106180	NP_000780	2e-135	ACE;ACE1;DCP1;MVCD3	ACE1;DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO,;KININASE II	Renal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3)
CG7811-PA	605363	NP_000808	2e-135	GAD1;SCP	GAD;GLUTAMATE DECARBOXYLASE, BRAIN, 67-KD; GAD67	Cerebral palsy, spastic, symmetric, autosomal recessive, 603513 (3)
CG6976-PC	160720	NP_002461	2e-135	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG31092-PA	600073	NP_004516	2e-135	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG32396-PA	612850	NP_821080	2e-135	TUBB2B		Polymicrogyria, asymmetric, 610031 (3)
CG6058-PF	103850	NP_000025	3e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6975-PA	191092	NP_001107854	3e-135	LAM;TSC2	TSC4 GENE, FORMERLY; TSC4, FORMERLY;TUBERIN	Lymphangioleiomyomatosis, somatic, 606690 (3);Tuberous sclerosis-2, 191100 (3)
CG15792-PA	276903	NP_001120651	3e-135	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6058-PF	103850	NP_001121089	3e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG15274-PA	607340	NP_005449	3e-135	GABBR2;GPR51	G PROTEIN-COUPLED RECEPTOR 51; GPR51;GABA-B RECEPTOR, R2 SUBUNIT; GABABR2	{Nicotine dependence, protection against}, 188890 (3);{Nicotine dependence, susceptibility to}, 188890 (3)
CG11328-PB	300231	NP_006350	3e-135	NHE6;SLC9A6	SODIUM/HYDROGEN EXCHANGER 6; NHE6	Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
CG32300-PB	608125	NP_071450	3e-135	XT2;XYLT2	UDP-D-XYLOSE:PROTEOGLYCAN CORE PROTEIN BETA-D-XYLOSYLTRANSFERASE 2;XT2	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
CG6058-PF	103850	NP_908930	3e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PF	103850	NP_908932	3e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG7563-PA	114240	NP_997630	3e-135	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG6975-PA	191092	NP_000539	4e-135	LAM;TSC2	TSC4 GENE, FORMERLY; TSC4, FORMERLY;TUBERIN	Lymphangioleiomyomatosis, somatic, 606690 (3);Tuberous sclerosis-2, 191100 (3)
CG10118-PB	191290	NP_000351	5e-135	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG9935-PC	305915	NP_000819	5e-135	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG2146-PC	608568	NP_001070654	5e-135	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PB	276903	NP_001120651	5e-135	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PD	160740	NP_001093582	6e-135	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG11861-PA	300304	NP_003579	6e-135	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG11861-PB	300304	NP_003579	6e-135	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG11861-PC	300304	NP_003579	6e-135	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG6976-PD	160740	NP_060004	6e-135	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG6058-PB	103850	NP_000025	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PC	103850	NP_000025	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PD	103850	NP_000025	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG10118-PA	191290	NP_000351	7e-135	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG11861-PA	300304	NP_001073341	7e-135	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG11861-PB	300304	NP_001073341	7e-135	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG11861-PC	300304	NP_001073341	7e-135	CUL4B;MRXHF2;MRXSC;SFM2		Mental retardation syndrome, X-linked, Cabezas type, 300354 (3);Mental retardation-hypotonic facies syndrome, X-linked, 2, 300639 (3)
CG6976-PC	160740	NP_001093582	7e-135	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG6058-PB	103850	NP_001121089	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PC	103850	NP_001121089	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PD	103850	NP_001121089	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG15793-PA	176872	NP_002746	7e-135		MAPK/ERK KINASE 1; MEK1;MKK1; MAPKK1;PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 1; PRKMK1	
CG6976-PC	160740	NP_060004	7e-135	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG3835-PA	609186	NP_689996	7e-135	D2HGDH;D2HGD	D2HGD	D-2-hydroxyglutaric aciduria, 600721 (3)
CG3835-PB	609186	NP_689996	7e-135	D2HGDH;D2HGD	D2HGD	D-2-hydroxyglutaric aciduria, 600721 (3)
CG3835-PC	609186	NP_689996	7e-135	D2HGDH;D2HGD	D2HGD	D-2-hydroxyglutaric aciduria, 600721 (3)
CG33549-PC	608441	NP_892006	7e-135	KIAA0796;KIAA1262;KIAA1756;SCAR8;SYNE1	KIAA0796;KIAA1262;KIAA1756;NESPRIN 1;NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 1	Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
CG6058-PB	103850	NP_908930	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PC	103850	NP_908930	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PD	103850	NP_908930	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PB	103850	NP_908932	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PC	103850	NP_908932	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PD	103850	NP_908932	7e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG5411-PE	603390	NP_001025023	8e-135	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG6976-PD	160741	NP_002463	8e-135	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG10118-PA	191290	NP_954986	8e-135	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG10118-PA	191290	NP_954987	8e-135	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG6058-PA	103850	NP_000025	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PG	103850	NP_000025	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PA	103850	NP_001121089	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PG	103850	NP_001121089	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG5658-PA	605995	NP_055889	9e-135	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG6058-PA	103850	NP_908930	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PG	103850	NP_908930	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PA	103850	NP_908932	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PG	103850	NP_908932	9e-135	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG10118-PB	191290	NP_954986	9e-135	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG10118-PB	191290	NP_954987	9e-135	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG6976-PC	160741	NP_002463	1e-134	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG6976-PD	160745	NP_074035	1e-134	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG33715-PD	608441	NP_892006	1e-134	KIAA0796;KIAA1262;KIAA1756;SCAR8;SYNE1	KIAA0796;KIAA1262;KIAA1756;NESPRIN 1;NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 1	Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
CG9935-PB	305915	NP_000819	2e-134	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG6976-PC	160745	NP_002465	2e-134	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6976-PD	160745	NP_002465	2e-134	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6976-PC	160745	NP_074035	2e-134	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6320-PA	600003	NP_963887	2e-134	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6058-PE	103850	NP_000025	3e-134	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PE	103850	NP_001121089	3e-134	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG7595-PA	160741	NP_002463	3e-134	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG7595-PB	160741	NP_002463	3e-134	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG14026-PC	601299	NP_004320	3e-134	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG6058-PE	103850	NP_908930	3e-134	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6058-PE	103850	NP_908932	3e-134	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG6320-PC	600003	NP_963891	3e-134	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG14026-PD	603248	NP_001194	4e-134	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG6445-PA	605516	NP_071407	4e-134	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG6445-PB	605516	NP_071407	4e-134	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG9155-PB	606540	NP_001073936	5e-134	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG9155-PC	606540	NP_001073936	5e-134	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG7595-PA	160740	NP_001093582	5e-134	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG7595-PB	160740	NP_001093582	5e-134	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG7595-PA	160740	NP_060004	5e-134	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG7595-PB	160740	NP_060004	5e-134	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG14026-PA	601299	NP_004320	6e-134	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG6320-PC	600003	NP_963866	6e-134	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PD	600003	NP_963891	6e-134	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6976-PD	160745	NP_001035202	7e-134	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PA	606540	NP_001073936	7e-134	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG6976-PA	160720	NP_002461	7e-134	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG11328-PA	300231	NP_006350	7e-134	NHE6;SLC9A6	SODIUM/HYDROGEN EXCHANGER 6; NHE6	Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
CG9155-PD	606540	NP_001073936	8e-134	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG11898-PA	603234	NP_001162	8e-134	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG5789-PA	603234	NP_001162	8e-134	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6976-PB	160720	NP_002461	8e-134	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG7595-PA	606808	NP_059129	8e-134	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG7595-PB	606808	NP_059129	8e-134	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG6320-PD	600003	NP_963887	8e-134	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PA	600003	NP_963891	8e-134	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG7052-PC	103950	NP_000005	9e-134	A2M	MACROGLOBULIN, ALPHA-2	Emphysema due to alpha-2-macroglobulin deficiency (1);{Alzheimer disease, susceptibility to}, 104300 (3)
CG6976-PD	160745	NP_001035203	9e-134	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG14026-PB	601299	NP_004320	9e-134	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG15793-PA	601263	NP_109587	9e-134	MAP2K2;MEK2;MKK2;PRKMK2	MAPK/ERK KINASE 2; MEK2;MKK2; MAPKK2;PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 2; PRKMK2	Cardiofaciocutaneous syndrome, 115150 (3)
CG8529-PC	601239	NP_116760	9e-134	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG6976-PC	160745	NP_001035202	1e-133	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6976-PC	160745	NP_001035203	1e-133	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG8224-PA	603248	NP_001194	1e-133	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG6976-PC	160775	NP_002464	1e-133	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG6976-PD	160775	NP_002464	1e-133	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG8102-PA	161015	NP_009034	1e-133	NDUFV1;UQOR1	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT;UQOR1	Alexander disease, 203450 (3);Leigh syndrome, 256000 (3);Mitochondrial complex I deficiency, 252010 (3)
CG11898-PA	601439	NP_064693	1e-133	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6320-PD	600003	NP_963866	1e-133	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6320-PC	600003	NP_963887	1e-133	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG6976-PA	160740	NP_001093582	2e-133	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG6976-PB	160740	NP_001093582	2e-133	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG15792-PA	276903	NP_001120652	2e-133	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG8224-PB	603248	NP_001194	2e-133	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG6976-PA	160740	NP_060004	2e-133	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG6976-PB	160740	NP_060004	2e-133	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG30329-PA	605239	NP_065683	2e-133	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG30329-PA	605239	NP_570855	2e-133	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG30329-PA	605239	NP_570856	2e-133	ATP6N1B;ATP6V0A4;RTA1C;RTADR;VPP2	1B; ATP6N1B;ATP6N2;ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN;VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
CG7052-PB	103950	NP_000005	3e-133	A2M	MACROGLOBULIN, ALPHA-2	Emphysema due to alpha-2-macroglobulin deficiency (1);{Alzheimer disease, susceptibility to}, 104300 (3)
CG14291-PA	605270	NP_000190	3e-133	SGSH;MPS3A;SFMD	HEPARAN SULFATE SULFATASE; HSS;SULFAMIDASE	Sanfilippo syndrome, type A, 252900 (3)
CG15792-PB	276903	NP_001120652	3e-133	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PA	160741	NP_002463	3e-133	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG14026-PD	601299	NP_004320	3e-133	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG6320-PA	600003	NP_963866	3e-133	CACNB2	Ca(V) BETA-2; CAVB2;LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN;MYASTHENIC SYNDROME ANTIGEN B; MYSB	Brugada syndrome 4, 611876 (3)
CG15792-PA	276903	NP_000251	4e-133	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7627-PA	603234	NP_001162	4e-133	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG6045-PA	607633	NP_000370	5e-133	XDH	XANTHINE OXIDASE; XO;XANTHINE OXIDOREDUCTASE; XOR	Xanthinuria, type I, 278300 (3)
CG6976-PB	160741	NP_002463	5e-133	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG15792-PB	276903	NP_000251	6e-133	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG34157-PE	300377	NP_004011	6e-133	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG6976-PC	601478	NP_005370	6e-133	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG6976-PD	601478	NP_005370	6e-133	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG7052-PD	103950	NP_000005	7e-133	A2M	MACROGLOBULIN, ALPHA-2	Emphysema due to alpha-2-macroglobulin deficiency (1);{Alzheimer disease, susceptibility to}, 104300 (3)
CG12345-PB	118490	NP_001136405	7e-133	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG6976-PA	601478	NP_005370	7e-133	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG8529-PC	601239	NP_116761	7e-133	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG6976-PA	160745	NP_074035	8e-133	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG8529-PE	601239	NP_116760	8e-133	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG33549-PC	608441	NP_149062	8e-133	KIAA0796;KIAA1262;KIAA1756;SCAR8;SYNE1	KIAA0796;KIAA1262;KIAA1756;NESPRIN 1;NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 1	Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
CG12345-PB	118490	NP_065574	9e-133	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG6976-PB	160745	NP_074035	9e-133	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG12455-PA	608171	NP_758952	9e-133	CACNA2D4;RCD4		Retinal cone dystrophy 4, 610478 (3)
CG8475-PA	311870	NP_001116142	1e-132	PHKA1		Muscle glycogenosis, 300559 (3)
CG6976-PA	160745	NP_002465	1e-132	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG8475-PA	311870	NP_002628	1e-132	PHKA1		Muscle glycogenosis, 300559 (3)
CG6976-PB	601478	NP_005370	1e-132	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG8529-PA	601239	NP_116760	1e-132	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PB	601239	NP_116760	1e-132	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG33715-PD	608441	NP_149062	1e-132	KIAA0796;KIAA1262;KIAA1756;SCAR8;SYNE1	KIAA0796;KIAA1262;KIAA1756;NESPRIN 1;NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 1	Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
CG1732-PA	182138	NP_001036	2e-132	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG16944-PC	103220	NP_001142	2e-132	ANT1;PEO3;SLC25A4;T1	ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;ADP/ATP CARRIER 1; AAC1;ADP/ATP TRANSLOCASE 1;ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;TRANSLOCATOR), MEMBER 4; SLC25A4	Cardiomyopathy, familial hypertrophic, 192600 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)
CG16944-PD	103220	NP_001142	2e-132	ANT1;PEO3;SLC25A4;T1	ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;ADP/ATP CARRIER 1; AAC1;ADP/ATP TRANSLOCASE 1;ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;TRANSLOCATOR), MEMBER 4; SLC25A4	Cardiomyopathy, familial hypertrophic, 192600 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)
CG7595-PA	160720	NP_002461	2e-132	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG7595-PB	160720	NP_002461	2e-132	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG6976-PB	160745	NP_002465	2e-132	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7595-PA	608568	NP_079005	2e-132	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG7595-PB	608568	NP_079005	2e-132	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG8529-PD	601239	NP_116760	2e-132	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG7052-PE	103950	NP_000005	3e-132	A2M	MACROGLOBULIN, ALPHA-2	Emphysema due to alpha-2-macroglobulin deficiency (1);{Alzheimer disease, susceptibility to}, 104300 (3)
CG7766-PA	172490	NP_000284	3e-132	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG10501-PB	107930	NP_000781	3e-132	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG7766-PA	172490	NP_001027005	3e-132	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG10501-PB	107930	NP_001076440	3e-132	DDC	AROMATIC L-AMINO ACID DECARBOXYLASE; AADC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
CG8529-PC	601239	NP_001382	3e-132	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG7399-PA	607478	NP_775489	3e-132	NTPH;TPH2	TRYPTOPHAN HYDROXYLASE, NEURONAL; NTPH	{Unipolar depression, susceptibility to}, 608516 (3)
CG7399-PB	607478	NP_775489	3e-132	NTPH;TPH2	TRYPTOPHAN HYDROXYLASE, NEURONAL; NTPH	{Unipolar depression, susceptibility to}, 608516 (3)
CG10701-PC	179410	NP_002897	4e-132	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG5977-PA	604277	NP_055761	4e-132	SPAST;SPG4	SPASTIN; SPAST	Spastic paraplegia-4, 182601 (3)
CG5977-PB	604277	NP_055761	4e-132	SPAST;SPG4	SPASTIN; SPAST	Spastic paraplegia-4, 182601 (3)
CG6976-PB	160745	NP_001035202	5e-132	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6976-PA	160745	NP_001035202	6e-132	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7969-PA	154270	NP_002387	6e-132	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG6976-PA	160775	NP_002464	6e-132	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG6976-PB	160775	NP_002464	6e-132	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG5977-PA	604277	NP_955468	6e-132	SPAST;SPG4	SPASTIN; SPAST	Spastic paraplegia-4, 182601 (3)
CG5977-PB	604277	NP_955468	6e-132	SPAST;SPG4	SPASTIN; SPAST	Spastic paraplegia-4, 182601 (3)
CG12345-PA	118490	NP_001136405	7e-132	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG16944-PA	103220	NP_001142	7e-132	ANT1;PEO3;SLC25A4;T1	ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;ADP/ATP CARRIER 1; AAC1;ADP/ATP TRANSLOCASE 1;ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;TRANSLOCATOR), MEMBER 4; SLC25A4	Cardiomyopathy, familial hypertrophic, 192600 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)
CG16944-PB	103220	NP_001142	7e-132	ANT1;PEO3;SLC25A4;T1	ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;ADP/ATP CARRIER 1; AAC1;ADP/ATP TRANSLOCASE 1;ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;TRANSLOCATOR), MEMBER 4; SLC25A4	Cardiomyopathy, familial hypertrophic, 192600 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)
CG2118-PA	232000	NP_000273	8e-132	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG6976-PA	160745	NP_001035203	8e-132	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7678-PA	604592	NP_006010	8e-132	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG12345-PA	118490	NP_065574	8e-132	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG6976-PB	160745	NP_001035203	1e-131	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG12345-PB	118490	NP_001136401	1e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG12345-PB	118490	NP_001136406	1e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG15444-PB	604159	NP_004202	1e-131	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG15444-PC	604159	NP_004202	1e-131	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG15444-PD	604159	NP_004202	1e-131	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG12345-PB	118490	NP_066264	1e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG12345-PB	118490	NP_066265	1e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG12345-PB	118490	NP_066266	1e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG8529-PD	601239	NP_116761	1e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PE	601239	NP_116761	1e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG4685-PA	610045	NP_733936	1e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG4685-PB	610045	NP_733936	1e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG4685-PC	610045	NP_733936	1e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG4685-PD	610045	NP_733936	1e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG10231-PA	604961	NP_001070664	2e-131	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG17927-PD	276903	NP_001120651	2e-131	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PI	276903	NP_001120651	2e-131	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG8529-PA	601239	NP_116761	2e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PB	601239	NP_116761	2e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG31319-PA	604258	NP_872584	2e-131	DLC1	RHO GTPase-ACTIVATING PROTEIN 7; ARHGAP7	Colorectal cancer, somatic (3)
CG2135-PA	611499	NP_000172	3e-131	GUSB;MPS7		Mucopolysaccharidosis VII, 253220 (3)
CG7595-PA	608568	NP_001070654	3e-131	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG7595-PB	608568	NP_001070654	3e-131	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG7595-PA	600970	NP_004990	3e-131	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG7595-PB	600970	NP_004990	3e-131	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG4434-PA	138130	NP_005262	3e-131	GLUD1	GDH;GLUD	Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
CG4685-PA	610045	NP_001071	4e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG4685-PB	610045	NP_001071	4e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG4685-PC	610045	NP_001071	4e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG4685-PD	610045	NP_001071	4e-131	ALDH5A1;SSADH	SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
CG2118-PA	232000	NP_001121164	4e-131	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG9707-PA	609751	NP_009223	4e-131	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG12345-PA	118490	NP_001136401	5e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG12345-PA	118490	NP_001136406	5e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG8529-PA	601239	NP_001382	5e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PB	601239	NP_001382	5e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PE	601239	NP_001382	5e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG7806-PA	601439	NP_064693	5e-131	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG12345-PA	118490	NP_066264	5e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG12345-PA	118490	NP_066265	5e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG12345-PA	118490	NP_066266	5e-131	CHAT;CMS1A2		Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)
CG31319-PA	604258	NP_006085	6e-131	DLC1	RHO GTPase-ACTIVATING PROTEIN 7; ARHGAP7	Colorectal cancer, somatic (3)
CG8529-PD	601239	NP_001382	8e-131	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG5905-PA	300550	NP_000435	9e-131	PHEX;HYP;HPDR1	PEX	Hypophosphatemia, X-linked, 307800 (3)
CG5905-PB	300550	NP_000435	9e-131	PHEX;HYP;HPDR1	PEX	Hypophosphatemia, X-linked, 307800 (3)
CG11898-PA	601439	NP_005682	9e-131	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG8230-PA	607461	NP_060123	9e-131	DMC;DYM;FLJ90130;SMC		Dyggve-Melchior-Clausen disease, 223800 (3);Smith-McCort dysplasia, 607326 (3)
CG17927-PF	276903	NP_001120651	1e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PB	276903	NP_001120651	2e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PM	276903	NP_001120651	2e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG1634-PB	308840	NP_001137435	2e-130	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG11898-PA	601439	NP_064694	2e-130	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG1634-PB	308840	NP_076493	2e-130	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG1438-PA	608614	NP_997235	2e-130	BCD;CYP4V2	CYP4V2	Bietti crystalline corneoretinal dystrophy, 210370 (3)
CG7969-PB	154270	NP_002387	3e-130	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG9707-PA	609751	NP_004026	3e-130	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG1864-PB	601828	NP_006177	3e-130	NOT;NR4A2;NURR1;TINUR	NUCLEAR RECEPTOR OF T CELLS; NOT;NUCLEAR RECEPTOR-RELATED 1; NURR1;TRANSCRIPTIONALLY INDUCIBLE NUCLEAR RECEPTOR; TINUR	{Parkinson disease}, 168600 (3)
CG2174-PB	606808	NP_059129	3e-130	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG10952-PB	152427	NP_000229	4e-130	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG2411-PA	601309	NP_000255	4e-130	BCNS;HPE7;NBCCS;PTCH1	PTC;PTCH	Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Holoprosencephaly-7, 610828 (3)
CG17927-PA	276903	NP_001120651	4e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PH	276903	NP_001120651	4e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PI	276903	NP_001120652	4e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7223-PA	134934	NP_000133	5e-130	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG7223-PB	134934	NP_000133	5e-130	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG7223-PC	134934	NP_000133	5e-130	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG31092-PB	602600	NP_001018064	5e-130	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG17927-PD	276903	NP_001120652	5e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG31092-PB	602600	NP_004622	5e-130	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG9985-PA	606102	NP_036530	5e-130	LCCS3;PIP5K1C	PIP5K1-GAMMA	Lethal congenital contractural syndrome 3, 611369 (3)
CG2174-PA	606808	NP_059129	5e-130	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG1634-PA	308840	NP_076493	5e-130	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG1634-PC	308840	NP_076493	5e-130	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG17927-PC	276903	NP_001120651	6e-130	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG1634-PA	308840	NP_001137435	6e-130	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG1634-PC	308840	NP_001137435	6e-130	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG15444-PA	604159	NP_004202	6e-130	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG2146-PB	602666	NP_057323	6e-130	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG1461-PA	276600	NP_000344	7e-130	TAT	KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;OREGON TYPE TYROSINEMIA;RICHNER-HANHART SYNDROME;TYROSINE AMINOTRANSFERASE DEFICIENCY; TAT DEFICIENCY;TYROSINEMIA, TYPE II;TYROSINOSIS, OCULOCUTANEOUS TYPE	Tyrosinemia, type II (3)
CG1634-PB	308840	NP_000416	9e-130	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG10952-PA	152427	NP_000229	1e-129	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG17927-PD	276903	NP_000251	1e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PI	276903	NP_000251	1e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG10701-PD	607379	NP_000259	1e-129	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PE	607379	NP_000259	1e-129	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PF	607379	NP_000259	1e-129	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PG	607379	NP_000259	1e-129	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PH	607379	NP_000259	1e-129	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PI	607379	NP_000259	1e-129	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG18522-PA	607633	NP_000370	1e-129	XDH	XANTHINE OXIDASE; XO;XANTHINE OXIDOREDUCTASE; XOR	Xanthinuria, type I, 278300 (3)
CG4994-PA	600370	NP_002626	1e-129	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG4994-PB	600370	NP_002626	1e-129	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG8224-PA	601299	NP_004320	1e-129	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG4994-PA	600370	NP_998776	1e-129	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG4994-PB	600370	NP_998776	1e-129	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG17927-PK	276903	NP_001120651	2e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG15792-PC	602666	NP_057323	2e-129	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG15792-PD	602666	NP_057323	2e-129	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG8279-PA	604961	NP_001070664	3e-129	PDE11A;PDE11A1;PDE11A2;PDE11A3;PPNAD2	PDE11A1	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
CG17927-PF	276903	NP_001120652	3e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7964-PB	154270	NP_002387	3e-129	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG5501-PI	601478	NP_005370	3e-129	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG1864-PC	601828	NP_006177	3e-129	NOT;NR4A2;NURR1;TINUR	NUCLEAR RECEPTOR OF T CELLS; NOT;NUCLEAR RECEPTOR-RELATED 1; NURR1;TRANSCRIPTIONALLY INDUCIBLE NUCLEAR RECEPTOR; TINUR	{Parkinson disease}, 168600 (3)
CG9310-PA	600281	NP_849180	3e-129	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG9310-PB	600281	NP_849180	3e-129	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG9155-PA	160760	NP_000248	4e-129	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG1634-PA	308840	NP_000416	4e-129	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG1634-PC	308840	NP_000416	4e-129	CAML1;HSAS1;L1CAM	MIC5;NEURAL CELL ADHESION MOLECULE L1; CAML1	Corpus callosum, partial agenesis of, 304100 (3);CRASH syndrome, 303350 (3);Hydrocephalus due to aqueductal stenosis, 307000 (3);Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3);Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3);MASA syndrome, 303350 (3)
CG2146-PA	602666	NP_057323	4e-129	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG10952-PB	152427	NP_742054	4e-129	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG9155-PB	160760	NP_000248	5e-129	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG9155-PC	160760	NP_000248	5e-129	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG9155-PD	160760	NP_000248	5e-129	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG9310-PB	600281	NP_001025174	5e-129	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG17927-PB	276903	NP_001120652	5e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG11851-PA	606941	NP_079016	5e-129	ALG9;DIBD1	DISRUPTED IN BIPOLAR DISORDER 1; DIBD1	Congenital disorder of glycosylation, type Il, 608776 (3)
CG17927-PF	276903	NP_000251	6e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9310-PA	600281	NP_001025174	6e-129	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG17927-PH	276903	NP_001120652	6e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9310-PA	600281	NP_000448	7e-129	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG9310-PB	600281	NP_000448	7e-129	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG17927-PM	276903	NP_001120652	7e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9706-PA	603690	NP_004724	7e-129	ACATN;AT1;SLC33A1	ACETYL-CoA TRANSPORTER; ACATN;AT1	Spastic paraplegia-42, 612539 (3)
CG9706-PB	603690	NP_004724	7e-129	ACATN;AT1;SLC33A1	ACETYL-CoA TRANSPORTER; ACATN;AT1	Spastic paraplegia-42, 612539 (3)
CG9310-PC	600281	NP_849180	7e-129	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG11814-PA	606897	NP_000072	8e-129	CHS1;LYST	CHS1 GENE; CHS1	Chediak-Higashi syndrome, 214500 (3)
CG9122-PA	612349	NP_000268	8e-129	PAH;PKU1		Phenylketonuria, 261600 (3);[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
CG11851-PA	606941	NP_001071158	8e-129	ALG9;DIBD1	DISRUPTED IN BIPOLAR DISORDER 1; DIBD1	Congenital disorder of glycosylation, type Il, 608776 (3)
CG17927-PE	276903	NP_001120651	8e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PA	276903	NP_001120652	8e-129	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7806-PA	601439	NP_064694	8e-129	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG7438-PA	160775	NP_002464	9e-129	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG7438-PB	160775	NP_002464	9e-129	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG1891-PA	601284	NP_000011	1e-128	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG1891-PB	601284	NP_000011	1e-128	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG32134-PA	176943	NP_000132	1e-128	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_000132	1e-128	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG17927-PB	276903	NP_000251	1e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PH	276903	NP_000251	1e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PM	276903	NP_000251	1e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9310-PC	600281	NP_000448	1e-128	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG9510-PA	608310	NP_001020115	1e-128	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG9310-PC	600281	NP_001025174	1e-128	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG1891-PA	601284	NP_001070869	1e-128	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG1891-PB	601284	NP_001070869	1e-128	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG17927-PG	276903	NP_001120651	1e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG12833-PA	608500	NP_001138353	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG12833-PB	608500	NP_001138353	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG12833-PA	608500	NP_001138354	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG12833-PB	608500	NP_001138354	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG12833-PA	608500	NP_001138355	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG12833-PB	608500	NP_001138355	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG32134-PA	176943	NP_001138388	1e-128	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_001138388	1e-128	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG9783-PA	108961	NP_003986	1e-128	AMDM;ANPRB;NPR2	ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB	Acromesomelic dysplasia, Maroteaux type, 602875 (3)
CG12833-PA	608500	NP_694571	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG12833-PB	608500	NP_694571	1e-128	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG10952-PA	152427	NP_742054	1e-128	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG9310-PA	600281	NP_787110	1e-128	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG9310-PB	600281	NP_787110	1e-128	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG17927-PA	276903	NP_000251	2e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PC	276903	NP_000251	2e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG11140-PE	609523	NP_000373	2e-128	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG3210-PA	602378	NP_001005361	2e-128	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG3210-PA	602378	NP_001005362	2e-128	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG9510-PB	608310	NP_001020115	2e-128	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG11140-PE	609523	NP_001026976	2e-128	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG17927-PC	276903	NP_001120652	2e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG3536-PA	123825	NP_001136036	2e-128	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG2174-PA	160775	NP_002464	2e-128	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG3736-PA	604289	NP_036547	2e-128	RAD54B	RAD54B	Colon adenocarcinoma (3);Lymphoma, non-Hodgkin (3)
CG2146-PC	602666	NP_057323	2e-128	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG31092-PA	602600	NP_059992	2e-128	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG8544-PA	189967	NP_068780	3e-128	REF1;TCF13;TEAD1	TRANSCRIPTION FACTOR 13; TCF13;TRANSCRIPTIONAL ENHANCER FACTOR 1; TEF1	Sveinsson choreoretinal atrophy, 108985 (3)
CG8544-PC	189967	NP_068780	3e-128	REF1;TCF13;TEAD1	TRANSCRIPTION FACTOR 13; TCF13;TRANSCRIPTIONAL ENHANCER FACTOR 1; TEF1	Sveinsson choreoretinal atrophy, 108985 (3)
CG9155-PA	160745	NP_074035	3e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PB	160745	NP_074035	3e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PC	160745	NP_074035	3e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9310-PC	600281	NP_787110	3e-128	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG3536-PA	123825	NP_000078	4e-128	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG10701-PJ	607379	NP_000259	4e-128	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG17927-PK	276903	NP_001120652	4e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PA	160745	NP_002465	4e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PB	160745	NP_002465	4e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PC	160745	NP_002465	4e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PD	160745	NP_074035	4e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG17927-PL	276903	NP_001120651	5e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PD	160745	NP_002465	5e-128	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5680-PB	602897	NP_620447	5e-128	MAPK10;PRKM10;JNK3	C-JUN KINASE 3; JNK3;PROTEIN KINASE, MITOGEN-ACTIVATED, 10; PRKM10	Epileptic encephalopathy, Lennox-Gastaut type, 606369 (3)
CG31092-PB	602600	NP_059992	6e-128	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG15792-PD	600970	NP_004990	7e-128	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG9310-PA	600281	NP_849181	7e-128	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG9310-PB	600281	NP_849181	7e-128	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG5501-PH	601478	NP_005370	8e-128	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG31711-PA	612325	NP_055735	8e-128	ECO;ICK;KIAA0936;MRK	KIAA0936;MAK-RELATED KINASE; MRK	Endocrine-cerebroosteodysplasia, 612651 (3)
CG31711-PA	612325	NP_057597	8e-128	ECO;ICK;KIAA0936;MRK	KIAA0936;MAK-RELATED KINASE; MRK	Endocrine-cerebroosteodysplasia, 612651 (3)
CG17927-PK	276903	NP_000251	9e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PJ	276903	NP_001120651	9e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PD	276903	NP_001120651	9e-128	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG32134-PA	176943	NP_001138390	9e-128	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_001138390	9e-128	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG9310-PA	600281	NP_001025175	1e-127	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG9310-PB	600281	NP_001025175	1e-127	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG5695-PB	276903	NP_001120651	1e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PC	276903	NP_001120651	1e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG15792-PC	600970	NP_004990	1e-127	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG9310-PC	600281	NP_849181	1e-127	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG1315-PA	603470	NP_000041	2e-127	ASS		Citrullinemia, 215700 (3)
CG8279-PA	180072	NP_000274	2e-127	CSNB3;PDE6B;PDEB;RP40	RD, MOUSE, HOMOLOG OF;RD1, MOUSE, HOMOLOG OF;RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, BETA SUBUNIT; PDEB	Night blindness, congenital stationary, type 3, 163500 (3);Retinitis pigmentosa-40 (3)
CG7356-PA	190195	NP_000350	2e-127	ICR2;LI1;TGM1	TRANSGLUTAMINASE, EPIDERMAL TYPE I;TRANSGLUTAMINASE, KERATINOCYTE; TGK	Ichthyosiform erythroderma, congenital, 242100 (3);Ichthyosis, lamellar, autosomal recessive, 242300 (3);Self-healing collodion baby, 242300 (3)
CG7356-PB	190195	NP_000350	2e-127	ICR2;LI1;TGM1	TRANSGLUTAMINASE, EPIDERMAL TYPE I;TRANSGLUTAMINASE, KERATINOCYTE; TGK	Ichthyosiform erythroderma, congenital, 242100 (3);Ichthyosis, lamellar, autosomal recessive, 242300 (3);Self-healing collodion baby, 242300 (3)
CG7280-PA	606887	NP_000447	2e-127	SUOX		Sulfite oxidase deficiency, 272300 (3)
CG3210-PA	602378	NP_001005360	2e-127	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG9310-PC	600281	NP_001025175	2e-127	HNF4A;TCF14;MODY1	HEPATOCYTE NUCLEAR FACTOR 4; HNF4;HNF4-ALPHA;TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14	MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG7280-PA	606887	NP_001027558	2e-127	SUOX		Sulfite oxidase deficiency, 272300 (3)
CG7280-PA	606887	NP_001027559	2e-127	SUOX		Sulfite oxidase deficiency, 272300 (3)
CG5695-PA	276903	NP_001120651	2e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PE	276903	NP_001120651	2e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PF	276903	NP_001120651	2e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PE	276903	NP_001120652	2e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PG	276903	NP_001120652	2e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG8279-PA	180072	NP_001138763	2e-127	CSNB3;PDE6B;PDEB;RP40	RD, MOUSE, HOMOLOG OF;RD1, MOUSE, HOMOLOG OF;RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, BETA SUBUNIT; PDEB	Night blindness, congenital stationary, type 3, 163500 (3);Retinitis pigmentosa-40 (3)
CG10701-PD	607379	NP_057502	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PE	607379	NP_057502	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PF	607379	NP_057502	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PG	607379	NP_057502	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PH	607379	NP_057502	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PI	607379	NP_057502	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG1315-PA	603470	NP_446464	2e-127	ASS		Citrullinemia, 215700 (3)
CG11899-PA	610936	NP_478059	2e-127	EPIP;PSAT;PSAT1	ENDOMETRIAL PROGESTERONE-INDUCED PROTEIN; EPIP;PSAT	Phosphoserine aminotransferase deficiency, 610992 (3)
CG10701-PD	607379	NP_861546	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PE	607379	NP_861546	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PF	607379	NP_861546	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PG	607379	NP_861546	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PH	607379	NP_861546	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PI	607379	NP_861546	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PD	607379	NP_861970	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PE	607379	NP_861970	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PF	607379	NP_861970	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PG	607379	NP_861970	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PH	607379	NP_861970	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PI	607379	NP_861970	2e-127	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG17927-PE	276903	NP_000251	3e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG18519-PB	607633	NP_000370	3e-127	XDH	XANTHINE OXIDASE; XO;XANTHINE OXIDOREDUCTASE; XOR	Xanthinuria, type I, 278300 (3)
CG9090-PA	600370	NP_002626	3e-127	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG3210-PA	602378	NP_004936	3e-127	CMTDI1;CMTDIB;DNM2	DYN2	Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);Myopathy, centronuclear, 160150 (3)
CG6976-PD	600970	NP_004990	3e-127	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG7806-PA	601439	NP_005682	3e-127	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG7438-PA	160745	NP_074035	3e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7438-PB	160745	NP_074035	3e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9090-PA	600370	NP_998776	3e-127	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG17927-PG	276903	NP_000251	4e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG6976-PC	600970	NP_004990	4e-127	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG32649-PA	606980	NP_064632	4e-127	ADCK3;ARCA2;CABC1;COQ8;SCAR9	AARF DOMAIN-CONTAINING KINASE 3; ADCK3;COQ8, S. CEREVISIAE, HOMOLOG OF; COQ8	Coenzyme Q10 deficiency, 607426 (3);Spinocerebellar ataxia, autosomal recessive 9, 612016 (3)
CG12030-PA	606953	NP_000394	5e-127	GALE	GALACTOSE EPIMERASE	Galactose epimerase deficiency, 230350 (3)
CG12030-PA	606953	NP_001008217	5e-127	GALE	GALACTOSE EPIMERASE	Galactose epimerase deficiency, 230350 (3)
CG7766-PB	172490	NP_001027005	5e-127	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG5695-PD	276903	NP_001120652	5e-127	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG12030-PA	606953	NP_001121093	5e-127	GALE	GALACTOSE EPIMERASE	Galactose epimerase deficiency, 230350 (3)
CG2174-PB	160775	NP_002464	5e-127	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG1954-PA	176960	NP_002728	5e-127	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG18402-PA	147670	NP_001073285	6e-127	HHF5;INSR		Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3);Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3);Leprechaunism, 246200 (3);Rabson-Mendenhall syndrome, 262190 (3)
CG7438-PA	160745	NP_002465	6e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7438-PB	160745	NP_002465	6e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7075-PA	604159	NP_004202	6e-127	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG7766-PB	172490	NP_000284	7e-127	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG6291-PA	300145	NP_003390	8e-127	XPNPEP2	AMINOPEPTIDASE P, 2;X-PROLYL AMINOPEPTIDASE, MEMBRANE-BOUND	{Angioedema induced by ACE inhibitors, susceptibility to} (3)
CG15288-PB	600805	NP_937762	8e-127	LAMA3;LOCS	BM600;EPILIGRIN, 170-KD SUBUNIT;LAM5, ALPHA-3 SUBUNIT;LAMININ 5, ALPHA-3 SUBUNIT;LAMININ A3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3);Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);Laryngoonychocutaneous syndrome, 245660 (3)
CG9510-PA	608310	NP_001020117	9e-127	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG9155-PA	160745	NP_001035202	9e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PB	160745	NP_001035202	9e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PC	160745	NP_001035202	9e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PA	160745	NP_001035203	9e-127	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PA	276903	NP_000251	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PB	276903	NP_000251	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PC	276903	NP_000251	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PD	276903	NP_000251	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PE	276903	NP_000251	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PF	276903	NP_000251	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG9155-PD	160745	NP_001035202	1e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PB	160745	NP_001035203	1e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PC	160745	NP_001035203	1e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9155-PD	160745	NP_001035203	1e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PA	276903	NP_001120652	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PB	276903	NP_001120652	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PC	276903	NP_001120652	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PE	276903	NP_001120652	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG5695-PF	276903	NP_001120652	1e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG11084-PC	608500	NP_001138353	1e-126	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG11084-PC	608500	NP_001138354	1e-126	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG11084-PC	608500	NP_001138355	1e-126	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG31094-PA	600073	NP_004516	1e-126	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG6976-PA	600970	NP_004990	1e-126	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG6976-PB	600970	NP_004990	1e-126	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG1718-PA	600046	NP_005493	1e-126	ABC1;ABCA1;HDLDT1;TGD	ABC TRANSPORTER 1;ATP-BINDING CASSETTE 1; ABC1;ATP-BINDING CASSETTE TRANSPORTER 1;CHOLESTEROL EFFLUX REGULATORY PROTEIN; CERP;CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION;HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	HDL deficiency, type 2, 604091 (3);Tangier disease, 205400 (3);{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
CG11084-PC	608500	NP_694571	1e-126	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG4860-PA	606885	NP_000008	2e-126	ACADS;SCAD	ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAIN;SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD	Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
CG10060-PA	139330	NP_000163	2e-126	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG11140-PI	609523	NP_000373	2e-126	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG9510-PB	608310	NP_001020117	2e-126	ASL	ARGININOSUCCINASE	Argininosuccinic aciduria, 207900 (3)
CG11140-PI	609523	NP_001026976	2e-126	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG8544-PB	189967	NP_068780	2e-126	REF1;TCF13;TEAD1	TRANSCRIPTION FACTOR 13; TCF13;TRANSCRIPTIONAL ENHANCER FACTOR 1; TEF1	Sveinsson choreoretinal atrophy, 108985 (3)
CG10060-PA	139330	NP_653082	2e-126	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG3936-PA	601920	NP_000205	3e-126	AGS;AHD;JAG1	JAGL1	Alagille syndrome, 118450 (3);Deafness, congenital heart defects, and posterior embryotoxon (3);Tetralogy of Fallot, 187500 (3)
CG8475-PA	306000	NP_000283	3e-126	GSD9A;PHK;PHKA2;PYKL;XLG	GLYCOGEN STORAGE DISEASE IXa1;GLYCOGEN STORAGE DISEASE VIII, FORMERLY;GSD IX;GSD IXa; GSD9A;GSD VIII, FORMERLY; GSD8, FORMERLY;HEPATIC PHOSPHORYLASE KINASE DEFICIENCY; PHK;LIVER GLYCOGENOSIS, X-LINKED, TYPE I;PHOSPHORYLASE KINASE DEFICIENCY OF LIVER; PYK; PYKL;X-LINKED LIVER GLYCOGENOSIS; XLG	Glycogenosis, X-linked hepatic, type I (3);Glycogenosis, X-linked hepatic, type II (3)
CG7438-PA	160745	NP_001035202	3e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7438-PB	160745	NP_001035202	3e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG2411-PA	601309	NP_001077072	3e-126	BCNS;HPE7;NBCCS;PTCH1	PTC;PTCH	Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Holoprosencephaly-7, 610828 (3)
CG17927-PJ	276903	NP_001120652	3e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG17927-PL	276903	NP_001120652	3e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG15288-PB	600805	NP_001121189	3e-126	LAMA3;LOCS	BM600;EPILIGRIN, 170-KD SUBUNIT;LAM5, ALPHA-3 SUBUNIT;LAMININ 5, ALPHA-3 SUBUNIT;LAMININ A3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3);Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);Laryngoonychocutaneous syndrome, 245660 (3)
CG5481-PA	602431	NP_002933	3e-126	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG8224-PB	601299	NP_004320	3e-126	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG32134-PA	176943	NP_075259	3e-126	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_075259	3e-126	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG17927-PL	276903	NP_000251	4e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG7438-PA	160745	NP_001035203	4e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7438-PB	160745	NP_001035203	4e-126	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5481-PA	602431	NP_001122401	4e-126	KIAA1568;ROBO2;SAX3	KIAA1568;SAX3, C. ELEGANS, HOMOLOG OF, 2	Vesicoureteral reflux 2, 610878 (3)
CG6438-PA	162150	NP_000430	5e-126	BMIQ12;NEC1;PC1;PC3;PCSK1	NEUROENDOCRINE CONVERTASE 1; NEC1;PROHORMONE CONVERTASE 1;PROHORMONE CONVERTASE 3; PC3;PROPROTEIN CONVERTASE 1; PC1	Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptiblity to, BMIQ12}, 612362 (3)
CG12139-PB	192977	NP_003374	5e-126	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG15792-PA	602666	NP_057323	5e-126	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG8224-PA	601300	NP_064732	5e-126	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG17927-PJ	276903	NP_000251	6e-126	DFNA11;DFNB2;MYO7A;USH1B	MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A	Deafness, autosomal dominant 11, neurosensory, 601317 (3);Deafness, autosomal recessive 2, neurosensory, 600060 (3);Usher syndrome, type 1B, 276900 (3)
CG18516-PA	607633	NP_000370	6e-126	XDH	XANTHINE OXIDASE; XO;XANTHINE OXIDOREDUCTASE; XOR	Xanthinuria, type I, 278300 (3)
CG9155-PA	160775	NP_002464	6e-126	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG9155-PD	160775	NP_002464	6e-126	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG5695-PA	160777	NP_000250	7e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PC	160777	NP_000250	7e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PD	160777	NP_000250	7e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PE	160777	NP_000250	7e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PF	160777	NP_000250	7e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG9155-PB	160775	NP_002464	7e-126	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG9155-PC	160775	NP_002464	7e-126	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG4225-PA	300135	NP_004290	7e-126	ABC7;ABCB7;ASAT	ABC TRANSPORTER 7;ATP-BINDING CASSETTE 7; ABC7;ATP-BINDING CASSETTE TRANSPORTER 7	Anemia, sideroblastic, with ataxia, 301310 (3)
CG8380-PA	300036	NP_005620	7e-126	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG15792-PB	602666	NP_057323	7e-126	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG5695-PB	160777	NP_000250	8e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG6703-PC	300172	NP_001119527	8e-126	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG5695-PA	160777	NP_001135967	8e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PB	160777	NP_001135967	8e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PC	160777	NP_001135967	8e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PD	160777	NP_001135967	8e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PE	160777	NP_001135967	8e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG5695-PF	160777	NP_001135967	8e-126	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG10804-PB	608893	NP_001003841	1e-125	HND;SLC6A19	SLC6A19;SYSTEM B(0) NEUTRAL AMINO ACID TRANSPORTER 1	Hartnup disorder, 234500 (3)
CG15444-PA	126455	NP_001035	1e-125	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG11084-PA	608500	NP_001138353	1e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG11084-PA	608500	NP_001138354	1e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG11084-PA	608500	NP_001138355	1e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG3879-PA	603201	NP_003733	1e-125	ABCB11;BRIC2;BSEP;PFIC2;SPGP	BILE SALT EXPORT PUMP; BSEP;SISTER OF P-GLYCOPROTEIN; SPGP	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3);Cholestasis, progressive familial intrahepatic 2, 601847 (3)
CG9709-PA	609751	NP_009223	1e-125	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG10701-PJ	607379	NP_057502	1e-125	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG11084-PA	608500	NP_694571	1e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG10701-PJ	607379	NP_861546	1e-125	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PJ	607379	NP_861970	1e-125	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG1106-PE	137350	NP_000168	2e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG12139-PB	192977	NP_001018066	2e-125	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG15444-PB	126455	NP_001035	2e-125	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG15444-PC	126455	NP_001035	2e-125	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG15444-PD	126455	NP_001035	2e-125	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG11084-PB	608500	NP_001138353	2e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG11084-PB	608500	NP_001138354	2e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG11084-PB	608500	NP_001138355	2e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG2028-PA	600864	NP_001884	2e-125			
CG2028-PB	600864	NP_001884	2e-125			
CG2028-PC	600864	NP_001884	2e-125			
CG12582-PB	609489	NP_005899	2e-125	MANB1;MANBA	MANB1;MANNANASE;MANNASE	Mannosidosis, beta, 248510 (3)
CG2174-PA	160745	NP_074035	2e-125	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7223-PA	136350	NP_075593	2e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PB	136350	NP_075593	2e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PC	136350	NP_075593	2e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PA	136350	NP_075598	2e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PB	136350	NP_075598	2e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PC	136350	NP_075598	2e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG11084-PB	608500	NP_694571	2e-125	PRICKLE1;RILP;EPM1B	PRICKLE, DROSOPHILA, HOMOLOG OF, 1;REST-INTERACTING LIM DOMAIN PROTEIN; RILP	Epilepsy, progressive myoclonic 1B, 612437 (3)
CG1106-PB	137350	NP_000168	3e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PC	137350	NP_000168	3e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_000168	3e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_000168	3e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG32134-PA	176943	NP_001138387	3e-125	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_001138387	3e-125	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32451-PA	108740	NP_001672	3e-125	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG7223-PA	136350	NP_056934	3e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PB	136350	NP_056934	3e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PC	136350	NP_056934	3e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PA	136350	NP_075594	3e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PB	136350	NP_075594	3e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PC	136350	NP_075594	3e-125	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG6976-PD	608568	NP_079005	3e-125	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG32451-PC	108740	NP_733765	3e-125	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG11328-PB	608396	NP_775924	3e-125		SODIUM/HYDROGEN EXCHANGER 9; NHE9	
CG3216-PB	600179	NP_000171	4e-125	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG7438-PA	160777	NP_000250	4e-125	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG7438-PB	160777	NP_000250	4e-125	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG2411-PA	601309	NP_001077071	4e-125	BCNS;HPE7;NBCCS;PTCH1	PTC;PTCH	Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Holoprosencephaly-7, 610828 (3)
CG7438-PA	160777	NP_001135967	4e-125	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG7438-PB	160777	NP_001135967	4e-125	GS1;MYH12;MYO5A	DILUTE, MOUSE, HOMOLOG OF;MYO5;MYOSIN, HEAVY CHAIN 12; MYH12;MYOXIN	Griscelli syndrome, type 1, 214450 (3)
CG32451-PC	108740	NP_001672	4e-125	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG9709-PA	609751	NP_004026	4e-125	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG6992-PI	138244	NP_068775	4e-125	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG6976-PC	608568	NP_079005	4e-125	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG2028-PA	600864	NP_620693	4e-125			
CG2028-PB	600864	NP_620693	4e-125			
CG2028-PC	600864	NP_620693	4e-125			
CG32451-PB	108740	NP_001672	5e-125	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG2174-PA	160745	NP_002465	5e-125	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG2827-PA	602063	NP_006746	5e-125	TALDO1		Transaldolase deficiency, 606003 (3)
CG32451-PB	108740	NP_733765	5e-125	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG1106-PB	137350	NP_001121134	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_001121134	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PE	137350	NP_001121134	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_001121134	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PB	137350	NP_001121135	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_001121135	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PE	137350	NP_001121135	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_001121135	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PB	137350	NP_001121136	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_001121136	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PE	137350	NP_001121136	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_001121136	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PB	137350	NP_001121137	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_001121137	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PE	137350	NP_001121137	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_001121137	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PB	137350	NP_001121138	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_001121138	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PE	137350	NP_001121138	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_001121138	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PB	137350	NP_001121139	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_001121139	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PE	137350	NP_001121139	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_001121139	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG4016-PA	605712	NP_006406	6e-125	HSAN;HSN1;LBC1;SPT1;SPTLC1	LCB1;SPT1	Neuropathy, hereditary sensory and autonomic, type 1, 162400 (3)
CG4016-PB	605712	NP_006406	6e-125	HSAN;HSN1;LBC1;SPT1;SPTLC1	LCB1;SPT1	Neuropathy, hereditary sensory and autonomic, type 1, 162400 (3)
CG4016-PC	605712	NP_006406	6e-125	HSAN;HSN1;LBC1;SPT1;SPTLC1	LCB1;SPT1	Neuropathy, hereditary sensory and autonomic, type 1, 162400 (3)
CG1106-PB	137350	NP_937895	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PD	137350	NP_937895	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PE	137350	NP_937895	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PF	137350	NP_937895	6e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG9977-PA	180960	NP_000678	7e-125	AHCY;SAHH	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE,;SAHH	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3)
CG1106-PC	137350	NP_001121138	7e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PC	137350	NP_001121139	7e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG32451-PA	108740	NP_733765	7e-125	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG1106-PC	137350	NP_001121134	8e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PC	137350	NP_001121135	8e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PC	137350	NP_001121136	8e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PC	137350	NP_001121137	8e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG10079-PA	131550	NP_005219	8e-125	EGFR	ERBB1;HER1;ONCOGENE ERBB;V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3);Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3);{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
CG1106-PC	137350	NP_937895	8e-125	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PA	137350	NP_000168	1e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG8475-PB	172490	NP_000284	1e-124	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG8475-PB	172490	NP_001027005	1e-124	PHKB		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
CG2174-PA	160745	NP_001035202	1e-124	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5870-PA	604638	NP_004915	1e-124	ACTN4;FSGS;FSGS1	ACTININ-4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
CG10079-PB	131550	NP_005219	1e-124	EGFR	ERBB1;HER1;ONCOGENE ERBB;V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3);Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3);{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
CG3389-PA	605516	NP_071407	1e-124	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG7223-PA	176943	NP_075259	1e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_075259	1e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_075259	1e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG10639-PA	609584	NP_079160	1e-124	C14orf160;L2HGDH	C14ORF160;DURANIN	L-2-hydroxyglutaric aciduria, 236792 (3)
CG10804-PA	608893	NP_001003841	2e-124	HND;SLC6A19	SLC6A19;SYSTEM B(0) NEUTRAL AMINO ACID TRANSPORTER 1	Hartnup disorder, 234500 (3)
CG2174-PA	160745	NP_001035203	2e-124	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG4012-PA	605377	NP_001075029	2e-124	DM;DMK;DMPK	DM KINASE; DMK;DM PROTEIN KINASE;MYOTONIN-PROTEIN KINASE	Myotonic dystrophy, 160900 (3)
CG1106-PA	137350	NP_001121134	2e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PA	137350	NP_001121135	2e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PA	137350	NP_001121136	2e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PA	137350	NP_001121137	2e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PA	137350	NP_001121138	2e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG1106-PA	137350	NP_001121139	2e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG7969-PC	154270	NP_002387	2e-124	ME2	MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL	{Epilepsy, idopathic generalized, susceptibility to}, 600669 (3)
CG1106-PA	137350	NP_937895	2e-124	GSN		Amyloidosis, Finnish type, 105120 (3)
CG3433-PA	612732	NP_000088	3e-124	CPOX	CPO;CPX	Coproporphyria, 121300 (3);Harderoporphyria, 121300 (3)
CG6976-PC	608568	NP_001070654	3e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG6976-PD	608568	NP_001070654	3e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5423-PA	608630	NP_071765	3e-124	HGPPS;RBIG1;RIG1;ROBO3	RB-INHIBITING GENE 1; RBIG1; RIG1	Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
CG7223-PA	176943	NP_000132	4e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_000132	4e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_000132	4e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG6976-PC	602129	NP_001123537	4e-124	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG6976-PC	602129	NP_004136	4e-124	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG33048-PA	603707	NP_005934	4e-124	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG6976-PD	602129	NP_001123537	5e-124	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG7223-PA	176943	NP_001138388	5e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_001138388	5e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_001138388	5e-124	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG9701-PA	603202	NP_002290	5e-124	LAC;LCT;LPH	LAC;LACTASE-PHLORIZIN HYDROLASE; LPH	Lactase deficiency, congenital, 223000 (3)
CG10160-PA	150100	NP_002291	5e-124	LDHB	LDH, SUBUNIT H	Lactate dehydrogenase-B deficiency (3)
CG6976-PB	608568	NP_079005	5e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG6992-PI	138244	NP_786944	5e-124	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG6976-PA	608568	NP_079005	6e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG11328-PA	608396	NP_775924	6e-124		SODIUM/HYDROGEN EXCHANGER 9; NHE9	
CG30361-PC	604096	NP_000834	7e-124	CSNB1B;GRM6;MGLUR6	MGLUR6	Night blindness, congenital stationary, type 1B, 257270 (3)
CG6976-PD	602129	NP_004136	7e-124	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG9155-PA	608568	NP_079005	7e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG9155-PB	608568	NP_079005	7e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG9155-PC	608568	NP_079005	7e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG12703-PA	300371	NP_000024	8e-124	ABCD1;ALD;AMN	ADRENOLEUKODYSTROPHY PROTEIN; ALDP	Adrenoleukodystrophy, 300100 (3);Adrenomyeloneuropathy, 300100 (3)
CG9155-PD	608568	NP_079005	8e-124	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5603-PD	605018	NP_001035814	1e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG5603-PE	605018	NP_001035814	1e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG5603-PD	605018	NP_001035877	1e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG5603-PE	605018	NP_001035877	1e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG33048-PA	603707	NP_001068566	1e-123	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG4012-PA	605377	NP_001075031	1e-123	DM;DMK;DMPK	DM KINASE; DMK;DM PROTEIN KINASE;MYOTONIN-PROTEIN KINASE	Myotonic dystrophy, 160900 (3)
CG6976-PA	602129	NP_001123537	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG6976-PB	602129	NP_001123537	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG7595-PA	602129	NP_001123537	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG7595-PB	602129	NP_001123537	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG6976-PA	602129	NP_004136	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG6976-PB	602129	NP_004136	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG7595-PA	602129	NP_004136	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG7595-PB	602129	NP_004136	1e-123	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG18102-PD	603850	NP_005681	1e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PF	603850	NP_005681	1e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PG	603850	NP_005681	1e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PD	603850	NP_036192	1e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PF	603850	NP_036192	1e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PG	603850	NP_036192	1e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG5603-PD	605018	NP_056062	1e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG5603-PE	605018	NP_056062	1e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG3701-PA	182350	NP_689509	1e-123	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG6058-PH	612724	NP_000026	2e-123	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG3701-PA	182340	NP_000693	2e-123	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG18102-PA	603850	NP_005681	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PB	603850	NP_005681	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PC	603850	NP_005681	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PE	603850	NP_005681	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PH	603850	NP_005681	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PI	603850	NP_005681	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PA	603850	NP_036192	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PB	603850	NP_036192	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PC	603850	NP_036192	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PE	603850	NP_036192	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PH	603850	NP_036192	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PI	603850	NP_036192	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PA	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PB	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PC	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PD	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PE	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PF	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PG	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PH	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG18102-PI	603850	NP_036193	2e-123	DNM1L;DRP1;DVLP;DYMPLE	DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE;DYNAMIN-LIKE PROTEIN 1; DLP1;DYNAMIN-RELATED PROTEIN 1; DRP1;ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL;S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (3)
CG2174-PB	160745	NP_074035	2e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG31045-PF	160745	NP_074035	2e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG7223-PA	176943	NP_001138390	3e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_001138390	3e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_001138390	3e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG2174-PB	160745	NP_002465	3e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6976-PA	608568	NP_001070654	4e-123	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG6976-PB	608568	NP_001070654	4e-123	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG9155-PA	608568	NP_001070654	4e-123	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG9155-PB	160710	NP_002462	4e-123	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG9155-PC	160710	NP_002462	4e-123	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG31045-PA	160745	NP_002465	4e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG31045-PF	160745	NP_002465	4e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG15792-PA	600970	NP_004990	4e-123	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG5621-PB	305915	NP_015564	4e-123	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG5603-PC	605018	NP_056062	4e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG31045-PA	160745	NP_074035	4e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG1560-PA	600065	NP_000202	5e-123	CD18;ITGB2;LAD;LCAMB	LEUKOCYTE CELL ADHESION MOLECULE CD18; CD18	Leukocyte adhesion deficiency, 116920 (3)
CG8956-PB	180960	NP_000678	5e-123	AHCY;SAHH	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE,;SAHH	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3)
CG5603-PB	605018	NP_001035814	5e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG5603-PC	605018	NP_001035814	5e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG5603-PB	605018	NP_001035877	5e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG5603-PC	605018	NP_001035877	5e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG1560-PA	600065	NP_001120963	5e-123	CD18;ITGB2;LAD;LCAMB	LEUKOCYTE CELL ADHESION MOLECULE CD18; CD18	Leukocyte adhesion deficiency, 116920 (3)
CG7223-PA	176943	NP_001138391	5e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_001138391	5e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_001138391	5e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG9155-PA	160710	NP_002462	5e-123	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG9155-PD	160710	NP_002462	5e-123	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG31045-PB	160745	NP_002465	5e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG31045-PG	160745	NP_002465	5e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5603-PB	605018	NP_056062	5e-123	CDMT;CYLD1;EAC;MFT1	CYLD1;KIAA0849	Brooke-Spiegler syndrome, 605041 (3);Cylindromatosis, familial, 132700 (3);Trichoepithelioma, multiple familial, 1, 601606 (3)
CG31045-PG	160745	NP_074035	5e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6058-PF	612724	NP_000026	6e-123	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG6128-PA	612280	NP_000138	6e-123	FUCA1	ALPHA-L-FUCOSIDASE 1;FUCOSIDASE, ALPHA-L, TISSUE; FUCA	Fucosidosis, 230000 (3)
CG6128-PB	612280	NP_000138	6e-123	FUCA1	ALPHA-L-FUCOSIDASE 1;FUCOSIDASE, ALPHA-L, TISSUE; FUCA	Fucosidosis, 230000 (3)
CG9155-PB	608568	NP_001070654	6e-123	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG9155-PC	608568	NP_001070654	6e-123	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG15792-PB	600970	NP_004990	6e-123	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG31045-PB	160745	NP_074035	6e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG2995-PA	607001	NP_079033	6e-123	DEL9q34;EHMT1;EUHMTASE1	EUHMTASE1	Chromosome 9q subtelomeric deletion syndrome, 610253 (3)
CG15444-PA	163970	NP_001034	7e-123	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG15444-PB	163970	NP_001034	7e-123	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG15444-PC	163970	NP_001034	7e-123	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG15444-PD	163970	NP_001034	7e-123	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG7223-PA	176943	NP_001138385	7e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_001138385	7e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_001138385	7e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG14741-PA	602397	NP_005594	7e-123	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG2174-PA	160760	NP_000248	8e-123	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG9155-PD	608568	NP_001070654	8e-123	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG2174-PB	160745	NP_001035202	9e-123	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG32134-PA	176943	NP_001138391	9e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_001138391	9e-123	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PA	136350	NP_056934	9e-123	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG32134-PB	136350	NP_056934	9e-123	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG6058-PB	612724	NP_000026	1e-122	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG6058-PC	612724	NP_000026	1e-122	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG6058-PD	612724	NP_000026	1e-122	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG32134-PA	134934	NP_000133	1e-122	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG32134-PB	134934	NP_000133	1e-122	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG2174-PB	160760	NP_000248	1e-122	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG2174-PB	160745	NP_001035203	1e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG32134-PA	176943	NP_001138385	1e-122	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_001138385	1e-122	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG2174-PA	160710	NP_002462	1e-122	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG2174-PB	160710	NP_002462	1e-122	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG4012-PA	605377	NP_004400	1e-122	DM;DMK;DMPK	DM KINASE; DMK;DM PROTEIN KINASE;MYOTONIN-PROTEIN KINASE	Myotonic dystrophy, 160900 (3)
CG33048-PA	603707	NP_005933	1e-122	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG30329-PA	611716	NP_036595	1e-122	ARCL;ATP6V0A2;WSS	A2V-ATPase	Cutis laxa, autosomal recessive, type II, 219200 (3);Wrinkly skin syndrome, 278250 (3)
CG32134-PA	136350	NP_075593	1e-122	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG32134-PB	136350	NP_075593	1e-122	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG32134-PA	136350	NP_075594	1e-122	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG32134-PB	136350	NP_075594	1e-122	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG32134-PA	136350	NP_075598	1e-122	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG32134-PB	136350	NP_075598	1e-122	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG2964-PA	609712	NP_870986	1e-122	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG6058-PA	612724	NP_000026	2e-122	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG6058-PG	612724	NP_000026	2e-122	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG3619-PA	601920	NP_000205	2e-122	AGS;AHD;JAG1	JAGL1	Alagille syndrome, 118450 (3);Deafness, congenital heart defects, and posterior embryotoxon (3);Tetralogy of Fallot, 187500 (3)
CG3619-PB	601920	NP_000205	2e-122	AGS;AHD;JAG1	JAGL1	Alagille syndrome, 118450 (3);Deafness, congenital heart defects, and posterior embryotoxon (3);Tetralogy of Fallot, 187500 (3)
CG2964-PA	609712	NP_000289	2e-122	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG8956-PD	180960	NP_000678	2e-122	AHCY;SAHH	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE,;SAHH	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3)
CG31045-PF	160745	NP_001035202	2e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5549-PA	182138	NP_001036	2e-122	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG5695-PA	606540	NP_001073936	2e-122	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG5695-PB	606540	NP_001073936	2e-122	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG5695-PC	606540	NP_001073936	2e-122	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG5695-PD	606540	NP_001073936	2e-122	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG5695-PE	606540	NP_001073936	2e-122	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG5695-PF	606540	NP_001073936	2e-122	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG7223-PA	176943	NP_001138387	2e-122	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_001138387	2e-122	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_001138387	2e-122	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG6174-PA	102560	NP_001605	2e-122	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG9155-PA	160720	NP_002461	2e-122	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG9155-PB	160720	NP_002461	2e-122	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG9155-PC	160720	NP_002461	2e-122	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG31092-PB	600073	NP_004516	2e-122	DBS;LRP2	GLYCOPROTEIN 330;MEGALIN	Donnai-Barrow syndrome, 222448 (3)
CG2204-PB	139340	NP_005263	2e-122	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG2204-PD	139340	NP_005263	2e-122	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG2204-PE	139340	NP_005263	2e-122	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG2204-PF	139340	NP_005263	2e-122	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG2204-PG	139340	NP_005263	2e-122	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG2204-PH	139340	NP_005263	2e-122	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG1086-PB	138140	NP_006507	2e-122	DYT18;GLUT1;PED;SLC2A1	1; SLC2A1;ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER;GLUCOSE TRANSPORTER 1; GLUT; GLUT1	Dystonia-18, 612126 (3);Glucose transport defect, blood-brain barrier, 606777 (3);Paroxysmal exertion-induced dyskinesia and hemolytic anemia, 612126 (3)
CG1086-PC	138140	NP_006507	2e-122	DYT18;GLUT1;PED;SLC2A1	1; SLC2A1;ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER;GLUCOSE TRANSPORTER 1; GLUT; GLUT1	Dystonia-18, 612126 (3);Glucose transport defect, blood-brain barrier, 606777 (3);Paroxysmal exertion-induced dyskinesia and hemolytic anemia, 612126 (3)
CG30175-PA	188840	NP_596869	2e-122	CMD1G;EOMFC;HMERF;LGMD2J;MPRM;TMD;TTN	CONNECTIN	Cardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Tibial muscular dystrophy, tardive, 600334 (3)
CG11949-PA	130500	NP_976217	2e-122	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG31045-PA	160745	NP_001035202	3e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG31045-PG	160745	NP_001035202	3e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6174-PA	102630	NP_001092	3e-122	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG9155-PD	160720	NP_002461	3e-122	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG11949-PA	130500	NP_004428	3e-122	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG8102-PB	161015	NP_009034	3e-122	NDUFV1;UQOR1	COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT;UQOR1	Alexander disease, 203450 (3);Leigh syndrome, 256000 (3);Mitochondrial complex I deficiency, 252010 (3)
CG7399-PA	191290	NP_000351	4e-122	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG7399-PB	191290	NP_000351	4e-122	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG31045-PF	160745	NP_001035203	4e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG3536-PA	600053	NP_001073347	4e-122	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG9155-PB	160741	NP_002463	4e-122	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG9155-PC	160741	NP_002463	4e-122	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG6058-PE	612724	NP_000026	5e-122	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG31045-PB	160745	NP_001035202	5e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG31045-PA	160745	NP_001035203	5e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG31045-PB	160745	NP_001035203	5e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG31045-PG	160745	NP_001035203	5e-122	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG3536-PA	600053	NP_001289	5e-122	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG9155-PA	160741	NP_002463	6e-122	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG9155-PD	160741	NP_002463	6e-122	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG6703-PC	300172	NP_003679	6e-122	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG31094-PB	602600	NP_059992	6e-122	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG8224-PB	601300	NP_064732	6e-122	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG6703-PC	300172	NP_001119526	7e-122	CASK;CMG;FGS4;MICPCH	CAMGUK, DROSOPHILA, HOMOLOG OF; CMG;VERTEBRATE LIN2 HOMOLOG; LIN2	FG syndrome 4, 300422 (3);Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
CG9554-PB	603550	NP_004091	7e-122	CMD1J;DFNA10;EYA4	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4	Cardiomyopathy, dilated, 1J, 605362 (3);Deafness, autosomal dominant 10, 601316 (3)
CG9554-PB	603550	NP_742101	7e-122	CMD1J;DFNA10;EYA4	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4	Cardiomyopathy, dilated, 1J, 605362 (3);Deafness, autosomal dominant 10, 601316 (3)
CG7399-PA	191290	NP_954986	7e-122	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG7399-PA	191290	NP_954987	7e-122	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG4976-PA	606681	NP_071900	8e-122	ARA267;NSD1;STO	ANDROGEN RECEPTOR-ASSOCIATED COREGULATOR 267; ARA267;DOMAIN PROTEIN 1; NSD1;SET DOMAIN PROTEIN 1	Beckwith-Wiedemann syndrome, 130650 (3);Leukemia, acute myeloid, 601626 (1);Sotos syndrome, 117550 (3);Weaver syndrome, 277590 (3)
CG7399-PB	191290	NP_954986	8e-122	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG7399-PB	191290	NP_954987	8e-122	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG7948-PA	179617	NP_002866	9e-122	RAD51A;RECA	RAD51, S. CEREVISIAE, HOMOLOG OF, A; RAD51A;RECA, E. COLI, HOMOLOG OF;RECOMBINATION PROTEIN A; RECA	{Breast cancer, susceptibility to}, 114480 (3)
CG14228-PA	607379	NP_861967	9e-122	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG15444-PB	182138	NP_001036	1e-121	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG15444-PC	182138	NP_001036	1e-121	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG15444-PD	182138	NP_001036	1e-121	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG9155-PA	160740	NP_001093582	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG9155-PB	160740	NP_001093582	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG9155-PC	160740	NP_001093582	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG9155-PD	160740	NP_001093582	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG1732-PA	300036	NP_001136278	1e-121	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG9554-PA	603550	NP_004091	1e-121	CMD1J;DFNA10;EYA4	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4	Cardiomyopathy, dilated, 1J, 605362 (3);Deafness, autosomal dominant 10, 601316 (3)
CG11949-PB	130500	NP_004428	1e-121	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG31094-PA	602600	NP_059992	1e-121	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG9155-PA	160740	NP_060004	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG9155-PB	160740	NP_060004	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG9155-PC	160740	NP_060004	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG9155-PD	160740	NP_060004	1e-121	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG6383-PA	600275	NP_077719	1e-121	NOTCH2;AGS2		Alagille syndrome 2, 610205 (3)
CG7438-PA	608568	NP_079005	1e-121	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG7438-PB	608568	NP_079005	1e-121	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG9554-PA	603550	NP_742101	1e-121	CMD1J;DFNA10;EYA4	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4	Cardiomyopathy, dilated, 1J, 605362 (3);Deafness, autosomal dominant 10, 601316 (3)
CG10079-PA	131550	NP_958441	1e-121	EGFR	ERBB1;HER1;ONCOGENE ERBB;V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3);Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3);{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
CG11949-PB	130500	NP_976217	1e-121	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG33087-PC	192977	NP_003374	2e-121	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG11949-PC	130500	NP_004428	2e-121	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG6174-PA	102540	NP_005150	2e-121	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG4976-PA	606681	NP_758859	2e-121	ARA267;NSD1;STO	ANDROGEN RECEPTOR-ASSOCIATED COREGULATOR 267; ARA267;DOMAIN PROTEIN 1; NSD1;SET DOMAIN PROTEIN 1	Beckwith-Wiedemann syndrome, 130650 (3);Leukemia, acute myeloid, 601626 (1);Sotos syndrome, 117550 (3);Weaver syndrome, 277590 (3)
CG10079-PA	131550	NP_958439	2e-121	EGFR	ERBB1;HER1;ONCOGENE ERBB;V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3);Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3);{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
CG10079-PB	131550	NP_958439	2e-121	EGFR	ERBB1;HER1;ONCOGENE ERBB;V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3);Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3);{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
CG11949-PC	130500	NP_976217	2e-121	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG11949-PD	130500	NP_976217	2e-121	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG1607-PA	603593	NP_001119577	3e-121	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG1607-PB	603593	NP_001119577	3e-121	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG1607-PA	603593	NP_001119578	3e-121	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG1607-PB	603593	NP_001119578	3e-121	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG1607-PA	603593	NP_003973	3e-121	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG1607-PB	603593	NP_003973	3e-121	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG11949-PD	130500	NP_004428	3e-121	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG10079-PB	131550	NP_958441	3e-121	EGFR	ERBB1;HER1;ONCOGENE ERBB;V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3);Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3);{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
CG8279-PA	180071	NP_000431	4e-121	PDE6A;PDEA;RP43	RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, ALPHA SUBUNIT; PDEA	Retinitis pigmentosa-43 (3)
CG1977-PA	182870	NP_001020029	4e-121	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG5411-PD	603390	NP_001025022	4e-121	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5549-PA	163970	NP_001034	4e-121	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG15444-PA	182138	NP_001036	5e-121	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG5695-PA	160775	NP_002464	5e-121	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG5695-PB	160775	NP_002464	5e-121	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG5695-PC	160775	NP_002464	5e-121	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG5695-PE	160775	NP_002464	5e-121	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG5695-PF	160775	NP_002464	5e-121	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG7010-PA	300502	NP_000275	6e-121	PDHA1;PHE1A	PDHA;PDHCE1A;PHE1A	Leigh syndrome, X-linked, 308930 (3);Pyruvate dehydrogenase deficiency, 312170 (3)
CG7010-PD	300502	NP_000275	6e-121	PDHA1;PHE1A	PDHA;PDHCE1A;PHE1A	Leigh syndrome, X-linked, 308930 (3);Pyruvate dehydrogenase deficiency, 312170 (3)
CG5411-PA	603390	NP_001025022	6e-121	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5411-PB	603390	NP_001025022	6e-121	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG9413-PA	604144	NP_001119807	6e-121	CSNU3;SLC7A9	MEMBER 9; SLC7A9	Cystinuria, type II (3);Cystinuria, type III (3)
CG9413-PA	604144	NP_055085	6e-121	CSNU3;SLC7A9	MEMBER 9; SLC7A9	Cystinuria, type II (3);Cystinuria, type III (3)
CG7438-PA	608568	NP_001070654	7e-121	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG7438-PB	608568	NP_001070654	7e-121	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG1977-PA	182870	NP_000338	8e-121	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG33087-PC	192977	NP_001018066	8e-121	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG6174-PA	102610	NP_001091	9e-121	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG9413-PB	604144	NP_001119807	9e-121	CSNU3;SLC7A9	MEMBER 9; SLC7A9	Cystinuria, type II (3);Cystinuria, type III (3)
CG6174-PA	102620	NP_001135417	9e-121	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG6174-PA	102620	NP_001604	9e-121	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG9413-PB	604144	NP_055085	9e-121	CSNU3;SLC7A9	MEMBER 9; SLC7A9	Cystinuria, type II (3);Cystinuria, type III (3)
CG9092-PA	611458	NP_000395	1e-120	GLB1	BETA-GALACTOSIDASE-1	GM1-gangliosidosis, type I, 230500 (3);GM1-gangliosidosis, type II, 230600 (3);GM1-gangliosidosis, type III, 230650 (3);Morquio syndrome B, 253010 (3)
CG5695-PA	160745	NP_002465	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PB	160745	NP_002465	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PC	160745	NP_002465	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PE	160745	NP_002465	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PF	160745	NP_002465	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PA	160745	NP_074035	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PB	160745	NP_074035	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PE	160745	NP_074035	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PF	160745	NP_074035	1e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG10701-PB	607379	NP_000259	2e-120	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG7010-PC	300502	NP_000275	2e-120	PDHA1;PHE1A	PDHA;PDHCE1A;PHE1A	Leigh syndrome, X-linked, 308930 (3);Pyruvate dehydrogenase deficiency, 312170 (3)
CG6214-PA	600509	NP_000343	2e-120	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6214-PI	600509	NP_000343	2e-120	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6214-PJ	600509	NP_000343	2e-120	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6214-PO	600509	NP_000343	2e-120	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG3376-PB	607608	NP_000534	2e-120	NPD;SMPD1	SPHINGOMYELINASE, ACID; ASM	Niemann-Pick disease, type A, 257200 (3);Niemann-Pick disease, type B, 607616 (3)
CG5621-PB	305915	NP_000819	2e-120	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG3725-PA	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PB	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PC	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PD	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PE	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PF	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PG	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PH	604384	NP_001001485	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PA	604384	NP_001001486	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG9092-PA	611458	NP_001073279	2e-120	GLB1	BETA-GALACTOSIDASE-1	GM1-gangliosidosis, type I, 230500 (3);GM1-gangliosidosis, type II, 230600 (3);GM1-gangliosidosis, type III, 230650 (3);Morquio syndrome B, 253010 (3)
CG5695-PD	160775	NP_002464	2e-120	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG10804-PB	604159	NP_004202	2e-120	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG18345-PA	603652	NP_004612	2e-120	FSGS2;TRP6;TRPC6	TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 6; TRP6;TRPC6	Glomerulosclerosis, focal segmental, 2, 603965 (3)
CG18345-PB	603652	NP_004612	2e-120	FSGS2;TRP6;TRPC6	TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 6; TRP6;TRPC6	Glomerulosclerosis, focal segmental, 2, 603965 (3)
CG3725-PA	604384	NP_055197	2e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG31145-PA	611061	NP_064608	2e-120	DMP4;FAM20C	DENTIN MATRIX PROTEIN 4; DMP4	Raine syndrome, 259775 (3)
CG31145-PB	611061	NP_064608	2e-120	DMP4;FAM20C	DENTIN MATRIX PROTEIN 4; DMP4	Raine syndrome, 259775 (3)
CG5695-PC	160745	NP_074035	2e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG6214-PD	600509	NP_000343	3e-120	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG3376-PA	607608	NP_000534	3e-120	NPD;SMPD1	SPHINGOMYELINASE, ACID; ASM	Niemann-Pick disease, type A, 257200 (3);Niemann-Pick disease, type B, 607616 (3)
CG8665-PA	100650	NP_000681	3e-120	ALDH2	ACETALDEHYDE DEHYDROGENASE 2;ALDEHYDE DEHYDROGENASE 2;ALDH, LIVER MITOCHONDRIAL	Alcohol sensitivity, acute, 610251 (3);{Hangover, susceptibility to}, 610251 (3);{Sublingual nitroglycerin, susceptibility to poor response to} (3)
CG3725-PB	604384	NP_001001486	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PC	604384	NP_001001486	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PD	604384	NP_001001486	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PE	604384	NP_001001486	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PF	604384	NP_001001486	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PG	604384	NP_001001486	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PH	604384	NP_001001486	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PB	604384	NP_001001487	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PC	604384	NP_001001487	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PD	604384	NP_001001487	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PE	604384	NP_001001487	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PF	604384	NP_001001487	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PG	604384	NP_001001487	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PH	604384	NP_001001487	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG17927-PI	600970	NP_004990	3e-120	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG2174-PB	600970	NP_004990	3e-120	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG3725-PB	604384	NP_055197	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PC	604384	NP_055197	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PD	604384	NP_055197	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PE	604384	NP_055197	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PF	604384	NP_055197	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PG	604384	NP_055197	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG3725-PH	604384	NP_055197	3e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG9554-PA	603550	NP_742103	3e-120	CMD1J;DFNA10;EYA4	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4	Cardiomyopathy, dilated, 1J, 605362 (3);Deafness, autosomal dominant 10, 601316 (3)
CG9554-PB	603550	NP_742103	3e-120	CMD1J;DFNA10;EYA4	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4	Cardiomyopathy, dilated, 1J, 605362 (3);Deafness, autosomal dominant 10, 601316 (3)
CG3725-PA	604384	NP_001001487	4e-120	ATP2C1;BCPM;HHD	ATPase, Ca(2+)-SEQUESTERING	Hailey-Hailey disease, 169600 (3)
CG4586-PA	609751	NP_004026	4e-120	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG2174-PA	600970	NP_004990	4e-120	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG4587-PA	608171	NP_758952	4e-120	CACNA2D4;RCD4		Retinal cone dystrophy 4, 610478 (3)
CG5695-PD	160745	NP_074035	5e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9554-PA	601653	NP_000494	6e-120	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG9554-PB	601653	NP_000494	6e-120	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG1683-PA	103220	NP_001142	6e-120	ANT1;PEO3;SLC25A4;T1	ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;ADP/ATP CARRIER 1; AAC1;ADP/ATP TRANSLOCASE 1;ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;TRANSLOCATOR), MEMBER 4; SLC25A4	Cardiomyopathy, familial hypertrophic, 192600 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)
CG1683-PB	103220	NP_001142	6e-120	ANT1;PEO3;SLC25A4;T1	ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;ADP/ATP CARRIER 1; AAC1;ADP/ATP TRANSLOCASE 1;ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;TRANSLOCATOR), MEMBER 4; SLC25A4	Cardiomyopathy, familial hypertrophic, 192600 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)
CG5695-PD	160745	NP_002465	6e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG9554-PA	601653	NP_742055	6e-120	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG9554-PB	601653	NP_742055	6e-120	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG17927-PL	600970	NP_004990	7e-120	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG9554-PA	601653	NP_742057	7e-120	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG9554-PB	601653	NP_742057	7e-120	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG5695-PA	160745	NP_001035202	8e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PE	160745	NP_001035202	8e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PF	160745	NP_001035202	8e-120	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PB	160745	NP_001035202	1e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PC	160745	NP_001035202	1e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PA	160745	NP_001035203	1e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PB	160745	NP_001035203	1e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PC	160745	NP_001035203	1e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PE	160745	NP_001035203	1e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG5695-PF	160745	NP_001035203	1e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG2174-PB	602129	NP_001123537	1e-119	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG2174-PB	602129	NP_004136	1e-119	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG2146-PC	606808	NP_059129	1e-119	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG7729-PA	607900	NP_060141	1e-119	C20orf42;KIND1;URP1	CHROMOSOME 20 OPEN READING FRAME 42; C20ORF42;KINDLERIN;KINDLIN 1; KIND1;UNC112-RELATED PROTEIN 1; URP1	Kindler syndrome, 173650 (3)
CG3001-PA	142600	NP_000179	2e-119	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG6214-PH	600509	NP_000343	2e-119	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6214-PM	600509	NP_000343	2e-119	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6598-PA	103720	NP_000659	2e-119	ADH1B;ADH2	ADH, BETA SUBUNIT; ADH1B;ALCOHOL DEHYDROGENASE 2	{Alcoholism, susceptibility to}, 103780 (3)
CG2174-PA	602129	NP_001123537	2e-119	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG8380-PA	300036	NP_001136277	2e-119	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG2174-PA	602129	NP_004136	2e-119	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG17927-PB	600970	NP_004990	2e-119	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG4994-PA	600370	NP_005879	2e-119	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG4994-PB	600370	NP_005879	2e-119	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG3001-PA	142600	NP_277032	2e-119	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG3001-PA	142600	NP_277033	2e-119	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG3001-PA	142600	NP_277035	2e-119	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG3593-PA	258900	NP_000364	3e-119	UMPS;OPRT	OPRT AND OMP DECARBOXYLASE DEFICIENCY;OROTATE PHOSPHORIBOSYLTRANSFERASE AND OMP DECARBOXYLASE DEFICIENCY;OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;UMP SYNTHASE DEFICIENCY;UMPS DEFICIENCY;URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY	Oroticaciduria (3)
CG7904-PA	602730	NP_001097	3e-119	ACTRIIB;ACVR2B	ACTRIIB	Heterotaxy, visceral, 4, autosomal (3)
CG10079-PA	190151	NP_001973	3e-119	ERBB3;LCCS2	ONCOGENE ERBB3;TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER3; HER3	Lethal congenital contractural syndrome 2, 607598 (3)
CG17927-PF	600970	NP_004990	3e-119	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG17927-PK	600970	NP_004990	3e-119	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG17927-PM	600970	NP_004990	3e-119	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG7438-PA	602666	NP_057323	3e-119	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG7438-PB	602666	NP_057323	3e-119	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG3001-PA	142600	NP_277031	3e-119	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG6214-PE	600509	NP_000343	4e-119	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6214-PF	600509	NP_000343	4e-119	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6214-PN	600509	NP_000343	4e-119	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG5695-PD	160745	NP_001035202	4e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG8224-PA	102576	NP_001096	4e-119	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG8224-PA	102576	NP_001104537	4e-119	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG6214-PK	600509	NP_000343	5e-119	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG5695-PD	160745	NP_001035203	5e-119	AAT4;FAA4;MYH11	MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC	Aortic aneurysm, familial thoracic 4, 132900 (3)
CG1084-PA	600016	NP_001834	5e-119	CNTN1		Myopathy, congenital, Compton-North, 612540 (3)
CG2174-PA	160720	NP_002461	5e-119	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG2174-PB	160720	NP_002461	5e-119	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG17998-PA	180381	NP_002920	5e-119	GRK1;RHOK;RK	RHODOPSIN KINASE; RHOK;RK	Oguchi disease-2, 258100 (3)
CG11155-PB	138244	NP_068775	5e-119	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG11155-PB	138244	NP_786944	6e-119	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG7438-PA	606540	NP_001073936	7e-119	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG7438-PB	606540	NP_001073936	7e-119	KIAA1119;MYO5B	KIAA1119	Microvillus inclusion disease, 251850 (3)
CG9090-PA	600370	NP_005879	7e-119	PHC;SLC25A3	PHOSPHATE CARRIER, MITOCHONDRIAL; PHC	Micochondrial phosphate carrier deficiency, 610773 (3)
CG1084-PA	600016	NP_778203	7e-119	CNTN1		Myopathy, congenital, Compton-North, 612540 (3)
CG33141-PA	602716	NP_004637	8e-119	NPHN;NPHS1	NPHN;RENAL GLOMERULUS-SPECIFIC CELL ADHESION RECEPTOR	Nephrosis-1, congenital, Finnish type, 256300 (3)
CG33141-PB	602716	NP_004637	8e-119	NPHN;NPHS1	NPHN;RENAL GLOMERULUS-SPECIFIC CELL ADHESION RECEPTOR	Nephrosis-1, congenital, Finnish type, 256300 (3)
CG17927-PD	600970	NP_004990	8e-119	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG2146-PB	600970	NP_004990	9e-119	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG10701-PA	607379	NP_000259	1e-118	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG1718-PA	601691	NP_000341	1e-118	ABCA4;ABCR;ARMD2;CORD3;FFM;RP19;STGD1	ABC TRANSPORTER, RETINA-SPECIFIC;ATP-BINDING CASSETTE TRANSPORTER, RETINA-SPECIFIC; ABCR;PHOTORECEPTOR RIM PROTEIN; RMP	Cone-rod dystrophy 3, 604116 (3);Fundus flavimaculatus, 248200 (3);Macular degeneration, age-related, 2, 153800 (3);Retinal dystrophy, early-onset severe, 248200 (3);Retinitis pigmentosa-19, 601718 (3);Stargardt disease-1, 248200 (3)
CG5618-PA	605363	NP_000808	1e-118	GAD1;SCP	GAD;GLUTAMATE DECARBOXYLASE, BRAIN, 67-KD; GAD67	Cerebral palsy, spastic, symmetric, autosomal recessive, 603513 (3)
CG1891-PA	190181	NP_004603	1e-118	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG2146-PA	600970	NP_004990	1e-118	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG9155-PA	600970	NP_004990	1e-118	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG9155-PB	600970	NP_004990	1e-118	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG9155-PC	600970	NP_004990	1e-118	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG15792-PD	601478	NP_005370	1e-118	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG16928-PA	600814	NP_005582	1e-118	ATLD;MRE11;MRE11A	MRE11	Ataxia-telangiectasia-like disorder, 604391 (3)
CG2331-PB	601023	NP_009057	1e-118	VCP;IBMPFD	CDC48, YEAST, HOMOLOG OF;p97	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, 167320 (3)
CG6383-PA	190198	NP_060087	1e-118	NOTCH1;TAN1	TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG; TAN1	Aortic valve disease, 109730 (3);Leukemia, T-cell acute lymphoblastic (2)
CG5725-PE	606157	NP_705902	1e-118	HARP;NBIA1;PANK2;PKAN		HARP syndrome, 607236 (3);Neurodegeneration, pantothenate kinase-associated, 234200 (3)
CG6214-PG	600509	NP_000343	2e-118	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG2316-PA	170995	NP_002849	2e-118	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG2316-PB	170995	NP_002849	2e-118	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG2316-PC	170995	NP_002849	2e-118	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG2316-PD	170995	NP_002849	2e-118	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG2316-PE	170995	NP_002849	2e-118	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG2316-PG	170995	NP_002849	2e-118	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG10804-PA	604159	NP_004202	2e-118	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG1891-PB	190181	NP_004603	2e-118	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG17927-PH	600970	NP_004990	2e-118	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG2146-PC	600970	NP_004990	2e-118	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG9155-PD	600970	NP_004990	2e-118	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG15792-PC	601478	NP_005370	2e-118	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG16928-PA	600814	NP_005581	2e-118	ATLD;MRE11;MRE11A	MRE11	Ataxia-telangiectasia-like disorder, 604391 (3)
CG4586-PA	609751	NP_009223	2e-118	ACOX;ACOX1;SCOX	ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX;ACYL-CoA OXIDASE; ACOX;PALMITOYL-CoA OXIDASE	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
CG7922-PA	609644	NP_065988	2e-118	FANCM;KIAA1596	FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 250-KD; FAAP250;KIAA1596	Fanconi anemia, complementation group M (3)
CG5725-PB	606157	NP_705902	2e-118	HARP;NBIA1;PANK2;PKAN		HARP syndrome, 607236 (3);Neurodegeneration, pantothenate kinase-associated, 234200 (3)
CG10738-PA	600179	NP_000171	3e-118	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG10738-PB	600179	NP_000171	3e-118	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG6214-PL	600509	NP_000343	3e-118	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG17489-PA	603634	NP_000960	3e-118	DBA6;RPL5		Diamond-Blackfan anemia 6, 612561 (3)
CG17489-PB	603634	NP_000960	3e-118	DBA6;RPL5		Diamond-Blackfan anemia 6, 612561 (3)
CG32000-PG	610513	NP_001135446	3e-118	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG1709-PA	604592	NP_006010	3e-118	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG1709-PF	604592	NP_006010	3e-118	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG5621-PA	305915	NP_015564	3e-118	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG10701-PB	607379	NP_057502	3e-118	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG7729-PA	607901	NP_113659	3e-118	FERMT3;KIND3;MIG2B;URP2	KINDLIN 3; KIND3;MIG2B;UNC112-RELATED PROTEIN 2; URP2	Leukocyte adhesion deficiency, type III, 612840 (3)
CG5725-PA	606157	NP_705902	3e-118	HARP;NBIA1;PANK2;PKAN		HARP syndrome, 607236 (3);Neurodegeneration, pantothenate kinase-associated, 234200 (3)
CG5725-PC	606157	NP_705902	3e-118	HARP;NBIA1;PANK2;PKAN		HARP syndrome, 607236 (3);Neurodegeneration, pantothenate kinase-associated, 234200 (3)
CG5725-PD	606157	NP_705902	3e-118	HARP;NBIA1;PANK2;PKAN		HARP syndrome, 607236 (3);Neurodegeneration, pantothenate kinase-associated, 234200 (3)
CG33135-PB	603537	NP_751895	3e-118	DFNA2A;KCNQ4	POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 4	Deafness, autosomal dominant 2A, 600101 (3)
CG10701-PB	607379	NP_861546	3e-118	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PB	607379	NP_861970	3e-118	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG17299-PF	602743	NP_057287	4e-118	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG6383-PB	600275	NP_077719	4e-118	NOTCH2;AGS2		Alagille syndrome 2, 610205 (3)
CG14228-PA	607379	NP_861966	4e-118	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG7438-PA	160760	NP_000248	5e-118	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG7438-PB	160760	NP_000248	5e-118	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG34157-PC	300377	NP_004010	5e-118	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG10231-PA	180072	NP_000274	6e-118	CSNB3;PDE6B;PDEB;RP40	RD, MOUSE, HOMOLOG OF;RD1, MOUSE, HOMOLOG OF;RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, BETA SUBUNIT; PDEB	Night blindness, congenital stationary, type 3, 163500 (3);Retinitis pigmentosa-40 (3)
CG4012-PA	605377	NP_001075032	6e-118	DM;DMK;DMPK	DM KINASE; DMK;DM PROTEIN KINASE;MYOTONIN-PROTEIN KINASE	Myotonic dystrophy, 160900 (3)
CG32000-PA	610513	NP_001135445	6e-118	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG32000-PB	610513	NP_001135445	6e-118	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG32000-PG	610513	NP_001135445	6e-118	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG32000-PA	610513	NP_001135446	6e-118	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG32000-PB	610513	NP_001135446	6e-118	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG10231-PA	180072	NP_001138763	6e-118	CSNB3;PDE6B;PDEB;RP40	RD, MOUSE, HOMOLOG OF;RD1, MOUSE, HOMOLOG OF;RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, BETA SUBUNIT; PDEB	Night blindness, congenital stationary, type 3, 163500 (3);Retinitis pigmentosa-40 (3)
CG17299-PA	602743	NP_057287	6e-118	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PB	602743	NP_057287	6e-118	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG5621-PA	305915	NP_000819	7e-118	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG9565-PA	300550	NP_000435	8e-118	PHEX;HYP;HPDR1	PEX	Hypophosphatemia, X-linked, 307800 (3)
CG34157-PG	300377	NP_004010	8e-118	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PH	300377	NP_004010	8e-118	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG6214-PI	601439	NP_064693	8e-118	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG34157-PA	300377	NP_004010	9e-118	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG6214-PA	601439	NP_064693	9e-118	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PO	601439	NP_064693	9e-118	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG3001-PB	142600	NP_000179	1e-117	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG6214-PB	600509	NP_000343	1e-117	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG6214-PC	600509	NP_000343	1e-117	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG17299-PF	602743	NP_001035723	1e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG2174-PA	160740	NP_001093582	1e-117	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG2174-PB	160740	NP_001093582	1e-117	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG10079-PB	190151	NP_001973	1e-117	ERBB3;LCCS2	ONCOGENE ERBB3;TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER3; HER3	Lethal congenital contractural syndrome 2, 607598 (3)
CG34157-PF	300377	NP_004010	1e-117	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG17299-PL	602743	NP_057287	1e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG2146-PA	606808	NP_059129	1e-117	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG2146-PB	606808	NP_059129	1e-117	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG2174-PA	160740	NP_060004	1e-117	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG2174-PB	160740	NP_060004	1e-117	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG3001-PB	142600	NP_277032	1e-117	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG3001-PB	142600	NP_277033	1e-117	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG3001-PB	142600	NP_277035	1e-117	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG5345-PA	607657	NP_714964	1e-117	CTH	CYSTATHIONASE	Cystathioninuria, 219500 (3);Homocysteine, total plasma, elevated (3)
CG12014-PA	309900	NP_000193	2e-117	IDS;MPS2;SIDS	HUNTER SYNDROME;IDS DEFICIENCY;IDURONATE 2-SULFATASE DEFICIENCY;MPS II; MPS2;SIDS DEFICIENCY;SULFOIDURONATE SULFATASE DEFICIENCY	Mucopolysaccharidosis II (3)
CG17489-PC	603634	NP_000960	2e-117	DBA6;RPL5		Diamond-Blackfan anemia 6, 612561 (3)
CG17299-PA	602743	NP_001035723	2e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PB	602743	NP_001035723	2e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG14026-PC	190181	NP_004603	2e-117	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG17299-PG	602743	NP_057287	2e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG5924-PA	606075	NP_068602	2e-117	C10orf2;IOSCA;PEO1;PEOA3;SANDO;TWINKLE	T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION;;TWINKLE	Mitochondrial DNA depletion syndrome, hepatocerebral form, 251880 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 (3);Sensory ataxia neuropathy, dysarthria, and ophthalmoparesis, 607459 (3);Spinocerebellar ataxia, infantile-onset, 271245 (3)
CG32000-PA	610513	NP_071372	2e-117	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG32000-PB	610513	NP_071372	2e-117	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG32000-PG	610513	NP_071372	2e-117	ATP13A2;KRPPD;PARK9		Parkinson disease 9, 606693 (3)
CG3001-PB	142600	NP_277031	2e-117	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG10236-PA	156225	NP_000417	3e-117	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG12139-PB	606945	NP_000518	3e-117	FH;FHC;LDLCQ2;LDLR	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	Hypercholesterolemia, familial, 143890 (3)
CG17299-PL	602743	NP_001035723	3e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG2204-PA	139340	NP_005263	3e-117	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG2204-PC	139340	NP_005263	3e-117	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG2204-PI	139340	NP_005263	3e-117	ACHM4;GNAT2	2; GNAT2;G PROTEIN, ALPHA-TRANSDUCING 2;TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE	Achromatopsia-4 (3)
CG18617-PA	604592	NP_006044	3e-117	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG18617-PB	604592	NP_006044	3e-117	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG14001-PA	606897	NP_000072	4e-117	CHS1;LYST	CHS1 GENE; CHS1	Chediak-Higashi syndrome, 214500 (3)
CG8742-PA	600179	NP_000171	4e-117	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG8742-PB	600179	NP_000171	4e-117	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG8742-PC	600179	NP_000171	4e-117	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG10236-PA	156225	NP_001073291	4e-117	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG17299-PC	602743	NP_057287	4e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PE	602743	NP_057287	4e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PJ	602743	NP_057287	4e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PK	602743	NP_057287	4e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG5481-PA	608630	NP_071765	4e-117	HGPPS;RBIG1;RIG1;ROBO3	RB-INHIBITING GENE 1; RBIG1; RIG1	Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
CG7806-PA	607040	NP_115972	4e-117	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG7806-PA	607040	NP_149163	4e-117	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG33114-PA	600179	NP_000171	5e-117	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG17299-PG	602743	NP_001035723	5e-117	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG34157-PB	300377	NP_004010	5e-117	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG34157-PD	300377	NP_004010	5e-117	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG14026-PA	190181	NP_004603	5e-117	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG17927-PA	600970	NP_004990	5e-117	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG3252-PA	604159	NP_004202	6e-117	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG14228-PA	179410	NP_002897	7e-117	RDX;DFNB24		Deafness, autosomal recessive, 24, 611022 (3)
CG12002-PA	606765	NP_783650	7e-117	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PC	606765	NP_783650	7e-117	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PD	606765	NP_783650	7e-117	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG12002-PE	606765	NP_783650	7e-117	TPO;TPX	THYROPEROXIDASE	Goiter, congenital (3);Hyperthyroidism, congenital (3);Thyroid hormone organification defect IIA, 274500 (3);Total iodide organification defect, 274500 (3)
CG14026-PB	190181	NP_004603	8e-117	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG14026-PD	190181	NP_004603	8e-117	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG6401-PA	311770	NP_002632	9e-117	PIGA		Paroxysmal nocturnal hemoglobinuria (3)
CG4058-PA	300550	NP_000435	1e-116	PHEX;HYP;HPDR1	PEX	Hypophosphatemia, X-linked, 307800 (3)
CG4058-PB	300550	NP_000435	1e-116	PHEX;HYP;HPDR1	PEX	Hypophosphatemia, X-linked, 307800 (3)
CG17299-PC	602743	NP_001035723	1e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PE	602743	NP_001035723	1e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PJ	602743	NP_001035723	1e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PK	602743	NP_001035723	1e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG4096-PA	608990	NP_112219	1e-116	ADAMTS10;WMS	1 MOTIF, 10; ADAMTS10	Weill-Marchesani syndrome, recessive, 277600 (3)
CG14991-PA	607901	NP_113659	1e-116	FERMT3;KIND3;MIG2B;URP2	KINDLIN 3; KIND3;MIG2B;UNC112-RELATED PROTEIN 2; URP2	Leukocyte adhesion deficiency, type III, 612840 (3)
CG14991-PB	607901	NP_113659	1e-116	FERMT3;KIND3;MIG2B;URP2	KINDLIN 3; KIND3;MIG2B;UNC112-RELATED PROTEIN 2; URP2	Leukocyte adhesion deficiency, type III, 612840 (3)
CG1743-PA	138290	NP_001028216	2e-116	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG1743-PA	138290	NP_001028228	2e-116	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG5599-PA	248610	NP_001909	2e-116	DBT;BCATE2	BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT; BCATE2;BRANCHED-CHAIN KETO ACID DEHYDROGENASE COMPLEX, E2 COMPONENT	Maple syrup urine disease, type II, 248600 (3)
CG1743-PA	138290	NP_002056	2e-116	GLNS;GLUL	GLUTAMINE SYNTHETASE; GLNS	Glutamine deficiency, congenital, 610015 (3)
CG34157-PE	300377	NP_004010	2e-116	BMD;CMD3B;DMD		Becker muscular dystrophy, 300376 (3);Cardiomyopathy, dilated, 3B, 302045 (3);Duchenne muscular dystrophy, 310200 (3)
CG32451-PA	108730	NP_004311	2e-116	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG10701-PA	607379	NP_057502	2e-116	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG17299-PA	602743	NP_077747	2e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PB	602743	NP_077747	2e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PF	602743	NP_077747	2e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PL	602743	NP_077747	2e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG32451-PA	108730	NP_775293	2e-116	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG7729-PA	607901	NP_848537	2e-116	FERMT3;KIND3;MIG2B;URP2	KINDLIN 3; KIND3;MIG2B;UNC112-RELATED PROTEIN 2; URP2	Leukocyte adhesion deficiency, type III, 612840 (3)
CG10701-PA	607379	NP_861546	2e-116	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PA	607379	NP_861970	2e-116	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG2204-PB	139330	NP_000163	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PD	139330	NP_000163	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PE	139330	NP_000163	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PF	139330	NP_000163	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PG	139330	NP_000163	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PH	139330	NP_000163	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG32451-PC	108730	NP_004311	3e-116	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG1709-PC	604592	NP_006010	3e-116	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG1709-PE	604592	NP_006010	3e-116	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG6214-PD	601439	NP_064693	3e-116	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PJ	601439	NP_064693	3e-116	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG33048-PC	603707	NP_620306	3e-116	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG2204-PB	139330	NP_653082	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PD	139330	NP_653082	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PE	139330	NP_653082	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PF	139330	NP_653082	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PG	139330	NP_653082	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PH	139330	NP_653082	3e-116	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG32451-PB	108730	NP_775293	3e-116	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG2174-PA	160741	NP_002463	4e-116	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG2174-PB	160741	NP_002463	4e-116	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG31045-PF	160775	NP_002464	4e-116	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG32451-PB	108730	NP_004311	4e-116	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG17299-PG	602743	NP_077747	4e-116	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG32451-PC	108730	NP_775293	4e-116	ATP2A1;SERCA1	SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1	Brody myopathy, 601003 (3)
CG5411-PE	603390	NP_001025022	5e-116	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG8177-PK	603345	NP_001128214	5e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG7806-PA	603234	NP_001162	5e-116	ABC34;ABCC6;ARA;MLP1;PXE	ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6	Pseudoxanthoma elasticum, 264800 (3);Pseudoxanthoma elasticum, forme fruste, 177850 (3)
CG33048-PC	603707	NP_005933	5e-116	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG32381-PA	608897	NP_954712	5e-116	FHL3;HLH3;HPLH3;MUNC13-4;UNC13D	MUNC13-4	Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
CG17923-PA	182340	NP_000693	6e-116	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG8177-PB	603345	NP_001128214	6e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PC	603345	NP_001128214	6e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PF	603345	NP_001128214	6e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PH	603345	NP_001128214	6e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PI	603345	NP_001128214	6e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PJ	603345	NP_001128214	6e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG31045-PG	160775	NP_002464	6e-116	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG33048-PC	603707	NP_005934	6e-116	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG6439-PA	604526	NP_008830	6e-116	IDH3B;RP46	ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, BETA SUBUNIT	Retinitis pigmentosa-46 (3)
CG10118-PA	612349	NP_000268	7e-116	PAH;PKU1		Phenylketonuria, 261600 (3);[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
CG8177-PA	603345	NP_001091954	7e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PD	603345	NP_001091954	7e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PG	603345	NP_001091954	7e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PK	603345	NP_001091954	7e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PD	603345	NP_001128214	7e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PE	603345	NP_001128214	7e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PJ	603345	NP_001091954	8e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PA	603345	NP_001128214	8e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PG	603345	NP_001128214	8e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG31045-PA	160775	NP_002464	8e-116	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG2174-PA	601478	NP_005370	8e-116	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG8177-PB	603345	NP_001091954	9e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PC	603345	NP_001091954	9e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PE	603345	NP_001091954	9e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PF	603345	NP_001091954	9e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PH	603345	NP_001091954	9e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PI	603345	NP_001091954	9e-116	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG31045-PB	160775	NP_002464	9e-116	DFNA17;FTNS;MHA;MYH9	CELLULAR MYOSIN HEAVY CHAIN, TYPE A;MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;NMHC IIA;NONMUSCLE MYOSIN IIA	Deafness, autosomal dominant 17, 603622 (3);Epstein syndrome, 153650 (3);Fechtner syndrome, 153640 (3);Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3);May-Hegglin anomaly, 155100 (3);Sebastian syndrome, 605249 (3)
CG4545-PA	300036	NP_005620	9e-116	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG10118-PB	612349	NP_000268	1e-115	PAH;PKU1		Phenylketonuria, 261600 (3);[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
CG17336-PA	137192	NP_000805	1e-115	ECA5;GABRB3	GABA-A RECEPTOR, BETA-3 POLYPEPTIDE	Epilepsy, childhood absence, 5, 612269 (3);Insomnia (3)
CG17336-PB	137192	NP_000805	1e-115	ECA5;GABRB3	GABA-A RECEPTOR, BETA-3 POLYPEPTIDE	Epilepsy, childhood absence, 5, 612269 (3);Insomnia (3)
CG17336-PC	137192	NP_000805	1e-115	ECA5;GABRB3	GABA-A RECEPTOR, BETA-3 POLYPEPTIDE	Epilepsy, childhood absence, 5, 612269 (3);Insomnia (3)
CG8224-PB	102576	NP_001096	1e-115	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG8224-PB	102576	NP_001104537	1e-115	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG9206-PA	601143	NP_004073	1e-115	DCTN1;HMN7B	p150(GLUED), DROSOPHILA, HOMOLOG OF	Neuropathy, distal hereditary motor, type VIIB, 607641 (3);Perry syndrome, 168605 (3);{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
CG17927-PC	600970	NP_004990	1e-115	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG2174-PB	601478	NP_005370	1e-115	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG8681-PB	305915	NP_015564	1e-115	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG17299-PI	602743	NP_057287	1e-115	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG6214-PC	601439	NP_064693	1e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PF	601439	NP_064693	1e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PH	601439	NP_064693	1e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PK	601439	NP_064693	1e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PM	601439	NP_064693	1e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG17299-PC	602743	NP_077747	1e-115	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PE	602743	NP_077747	1e-115	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PJ	602743	NP_077747	1e-115	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG17299-PK	602743	NP_077747	1e-115	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG3001-PA	138079	NP_000153	2e-115	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG5076-PA	152427	NP_000229	2e-115	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG2098-PA	612386	NP_001012533	2e-115	FCE;FECH	HEME SYNTHASE;HEME SYNTHETASE;IRON CHELATASE	Protoporphyria, erythropoietic, autosomal dominant, 177000 (3);Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)
CG17299-PI	602743	NP_001035723	2e-115	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG33048-PC	603707	NP_001068566	2e-115	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG3283-PA	185470	NP_002991	2e-115	PGL4;SDH1;SDHB;SDHIP	SUCCINATE DEHYDROGENASE 1, IRON SULFUR SUBUNIT; SDH1	Cowden-like syndrome, 612359 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paraganglioma, familial chromaffin, 4, 115310 (3);Pheochromocytoma, 171300 (3)
CG8177-PA	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PB	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PC	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PD	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PE	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PF	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PG	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PH	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PI	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PJ	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG8177-PK	603345	NP_003750	2e-115	KNBC;NBC1;SLC4A4;SLC4A5	4; SLC4A4;5, FORMERLY; SLC4A5, FORMERLY;SODIUM BICARBONATE COTRANSPORTER 1; NBC1;SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
CG5549-PA	300036	NP_005620	2e-115	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG9042-PA	611778	NP_055956	2e-115	GPD1L;KIAA0089	KIAA0089	Brugada syndrome 2, 611777 (3)
CG9042-PB	611778	NP_055956	2e-115	GPD1L;KIAA0089	KIAA0089	Brugada syndrome 2, 611777 (3)
CG9042-PC	611778	NP_055956	2e-115	GPD1L;KIAA0089	KIAA0089	Brugada syndrome 2, 611777 (3)
CG6214-PB	601439	NP_064693	2e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6439-PA	604526	NP_777280	2e-115	IDH3B;RP46	ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, BETA SUBUNIT	Retinitis pigmentosa-46 (3)
CG5870-PA	102574	NP_001095	3e-115	ACTN3		[Alpha-actinin-3 deficiency] (3);[Sprinting performance] (3)
CG2118-PB	232000	NP_001121164	3e-115	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1732-PB	604159	NP_004202	3e-115	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG1709-PB	604592	NP_006010	3e-115	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG1709-PD	604592	NP_006010	3e-115	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG17927-PL	602666	NP_057323	3e-115	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG9206-PA	601143	NP_075408	3e-115	DCTN1;HMN7B	p150(GLUED), DROSOPHILA, HOMOLOG OF	Neuropathy, distal hereditary motor, type VIIB, 607641 (3);Perry syndrome, 168605 (3);{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
CG17299-PI	602743	NP_077747	3e-115	CMH6;PRKAG2;WPWS	AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;AMPK-GAMMA-2	Cardiomyopathy, hypertrophic 6, with WPW, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3)
CG2204-PA	139330	NP_000163	4e-115	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PC	139330	NP_000163	4e-115	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PI	139330	NP_000163	4e-115	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2118-PB	232000	NP_000273	4e-115	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG2204-PA	139330	NP_653082	4e-115	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PC	139330	NP_653082	4e-115	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG2204-PI	139330	NP_653082	4e-115	GNAT1	1; GNAT1;G PROTEIN, ALPHA-TRANSDUCING 1;TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE	Night blindness, congenital stationary (3)
CG8224-PA	601284	NP_000011	5e-115	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG8224-PA	601284	NP_001070869	5e-115	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG7438-PA	160710	NP_002462	5e-115	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG7438-PB	160710	NP_002462	5e-115	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG1732-PB	300036	NP_005620	5e-115	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG17927-PB	602666	NP_057323	5e-115	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG6214-PG	601439	NP_064693	5e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG17336-PA	137192	NP_068712	5e-115	ECA5;GABRB3	GABA-A RECEPTOR, BETA-3 POLYPEPTIDE	Epilepsy, childhood absence, 5, 612269 (3);Insomnia (3)
CG17336-PB	137192	NP_068712	5e-115	ECA5;GABRB3	GABA-A RECEPTOR, BETA-3 POLYPEPTIDE	Epilepsy, childhood absence, 5, 612269 (3);Insomnia (3)
CG17336-PC	137192	NP_068712	5e-115	ECA5;GABRB3	GABA-A RECEPTOR, BETA-3 POLYPEPTIDE	Epilepsy, childhood absence, 5, 612269 (3);Insomnia (3)
CG6214-PL	601439	NP_064693	6e-115	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG3216-PA	600179	NP_000171	7e-115	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG5549-PA	126455	NP_001035	7e-115	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG15279-PA	604159	NP_004202	7e-115	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG15279-PB	604159	NP_004202	7e-115	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG8581-PA	120470	NP_005206	7e-115	DCC	COLORECTAL CANCER-RELATED CHROMOSOME SEQUENCE 18; CRC18;CRCR1	Colorectal cancer (3)
CG14991-PA	607901	NP_848537	7e-115	FERMT3;KIND3;MIG2B;URP2	KINDLIN 3; KIND3;MIG2B;UNC112-RELATED PROTEIN 2; URP2	Leukocyte adhesion deficiency, type III, 612840 (3)
CG14991-PB	607901	NP_848537	7e-115	FERMT3;KIND3;MIG2B;URP2	KINDLIN 3; KIND3;MIG2B;UNC112-RELATED PROTEIN 2; URP2	Leukocyte adhesion deficiency, type III, 612840 (3)
CG6844-PA	118502	NP_000733	8e-115	CHRNA2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CG6844-PB	118502	NP_000733	8e-115	CHRNA2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CG17927-PE	600970	NP_004990	9e-115	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG15792-PB	601478	NP_005370	9e-115	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG15444-PB	300036	NP_005620	9e-115	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG15444-PC	300036	NP_005620	9e-115	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG15444-PD	300036	NP_005620	9e-115	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG2174-PA	608568	NP_079005	9e-115	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG17923-PA	182350	NP_689509	9e-115	ATP1A3;DYT12;RDP	SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE	Dystonia-12, 128235 (3)
CG8224-PB	601284	NP_000011	1e-114	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG6214-PQ	600509	NP_000343	1e-114	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG8224-PB	601284	NP_001070869	1e-114	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG8529-PC	601239	NP_001121647	1e-114	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG31651-PA	601756	NP_004473	1e-114	GALNT3;HFTC;HHS	3; GALNT3;GalNAc TRANSFERASE 3; GalNAcT3;POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3	Hyperostosis-hyperphosphatemia syndrome, 610233 (3);Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
CG15792-PA	601478	NP_005370	1e-114	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG5695-PD	601478	NP_005370	1e-114	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG17927-PM	602666	NP_057323	1e-114	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG6214-PE	601439	NP_064693	1e-114	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PN	601439	NP_064693	1e-114	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG2174-PB	608568	NP_079005	1e-114	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG33048-PA	603707	NP_620306	1e-114	MOCOD;MOCS1		Molybdenum cofactor deficiency, type A, 252150 (3)
CG5731-PA	104170	NP_000253	2e-114	NAGA	ALPHA-GALACTOSIDASE B; GALB	Kanzaki disease, 609242 (3);Schindler disease, type I, 609241 (3);Schindler disease, type III, 609241 (3)
CG6214-PP	600509	NP_000343	2e-114	ABCC8;HHF1;PHHI;SUR;SUR1;TNDM2	SULFONYLUREA RECEPTOR, BETA-CELL HIGH-AFFINITY;SULFONYLUREA RECEPTOR; SUR;SUR1	Diabetes mellitus, noninsulin-dependent, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Diabetes mellitus, transient neonatal 2, 610374 (3);Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
CG13927-PA	137167	NP_000812	2e-114	GGCX		Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3);Vitamin K-dependent coagulation defect, 277450 (3)
CG9206-PA	601143	NP_001128512	2e-114	DCTN1;HMN7B	p150(GLUED), DROSOPHILA, HOMOLOG OF	Neuropathy, distal hereditary motor, type VIIB, 607641 (3);Perry syndrome, 168605 (3);{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
CG33135-PB	602232	NP_004510	2e-114	BFNC2;EBN2;KCNQ3	POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 3	Epilepsy, benign neonatal, type 2, 121201 (3)
CG17927-PJ	600970	NP_004990	2e-114	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG17927-PK	602666	NP_057323	2e-114	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG6977-PA	605516	NP_071407	2e-114	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG3001-PA	138079	NP_277042	2e-114	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG5076-PA	152427	NP_742054	2e-114	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG5432-PA	103850	NP_000025	3e-114	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG2174-PB	608568	NP_001070654	3e-114	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG7438-PA	160740	NP_001093582	3e-114	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG7438-PB	160740	NP_001093582	3e-114	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG3297-PB	603593	NP_001119577	3e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG3297-PB	603593	NP_001119578	3e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG5432-PA	103850	NP_001121089	3e-114	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG3954-PA	176876	NP_002825	3e-114	NS1;PTP2C;PTPN11;SHP2	PROTEIN-TYROSINE PHOSPHATASE 2C; PTP2C;TYROSINE PHOSPHATASE SHP2; SHP2	Leopard syndrome, 151100 (3);Leukemia, juvenile myelomonocytic, 607785 (3);Noonan syndrome 1, 163950 (3);Noonan-like/multiple giant cell lesion syndrome, 163955 (3)
CG10975-PB	151460	NP_002829	3e-114	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG3297-PB	603593	NP_003973	3e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG5695-PA	601478	NP_005370	3e-114	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG5695-PB	601478	NP_005370	3e-114	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG5695-PC	601478	NP_005370	3e-114	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG5695-PE	601478	NP_005370	3e-114	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG5695-PF	601478	NP_005370	3e-114	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG6622-PA	605437	NP_006246	3e-114	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG6622-PB	605437	NP_006246	3e-114	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG32560-PA	603384	NP_006763	3e-114	MRD5;SYNGAP	GTPase-ACTIVATING PROTEIN, RAS, SYNAPTIC, 135-KD, RAT, HOMOLOG OF;RAS-GTPase-ACTIVATING PROTEIN, SYNAPTIC, 135-KD, RAT, HOMOLOG OF;SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN, 135-KD, RAT, HOMOLOG OF;SYNGAP;SYNGAP, p135, RAT, HOMOLOG OF	Mental retardation, autosomal dominant 5, 612621 (3)
CG7438-PA	160740	NP_060004	3e-114	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG7438-PB	160740	NP_060004	3e-114	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG7100-PD	605516	NP_071407	3e-114	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG7100-PF	605516	NP_071407	3e-114	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG31033-PC	610767	NP_110430	3e-114	APG16L;ATG16L1;IBD10	APG16-LIKE; APG16L	{Inflammatory bowel disease 10, susceptibility to}, 611081 (3)
CG3001-PB	138079	NP_277042	3e-114	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG5432-PA	103850	NP_908930	3e-114	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG5432-PA	103850	NP_908932	3e-114	ALDOA	ALDOLASE 1;ALDOLASE A; ALDA;FRUCTOALDOLASE A;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A	Aldolase A deficiency, 611881 (3)
CG7665-PA	152790	NP_000224	4e-114	LCGR;LHCGR;LHR	GONADOTROPIN RECEPTOR;LUTEINIZING HORMONE RECEPTOR; LHR;LUTROPIN-CHORIOGONADOTROPIN RECEPTOR; LCGR	Leydig cell adenoma, somatic, with precocious puberty, 176410 (3);Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3);Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3);Luteinizing hormone resistance, female, 238320 (3);Precocious puberty, male, 176410 (3)
CG7665-PB	152790	NP_000224	4e-114	LCGR;LHCGR;LHR	GONADOTROPIN RECEPTOR;LUTEINIZING HORMONE RECEPTOR; LHR;LUTROPIN-CHORIOGONADOTROPIN RECEPTOR; LCGR	Leydig cell adenoma, somatic, with precocious puberty, 176410 (3);Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3);Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3);Luteinizing hormone resistance, female, 238320 (3);Precocious puberty, male, 176410 (3)
CG2174-PA	608568	NP_001070654	4e-114	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG10975-PB	151460	NP_563579	4e-114	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG3297-PA	603593	NP_001119577	5e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG3297-PC	603593	NP_001119577	5e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG3297-PA	603593	NP_001119578	5e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG3297-PC	603593	NP_001119578	5e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG9206-PA	601143	NP_001128513	5e-114	DCTN1;HMN7B	p150(GLUED), DROSOPHILA, HOMOLOG OF	Neuropathy, distal hereditary motor, type VIIB, 607641 (3);Perry syndrome, 168605 (3);{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
CG3297-PA	603593	NP_003973	5e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG3297-PC	603593	NP_003973	5e-114	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG7875-PA	603652	NP_004612	5e-114	FSGS2;TRP6;TRPC6	TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 6; TRP6;TRPC6	Glomerulosclerosis, focal segmental, 2, 603965 (3)
CG15444-PA	300036	NP_005620	5e-114	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG6383-PB	190198	NP_060087	5e-114	NOTCH1;TAN1	TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG; TAN1	Aortic valve disease, 109730 (3);Leukemia, T-cell acute lymphoblastic (2)
CG3001-PA	138079	NP_277043	5e-114	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG3001-PB	138079	NP_000153	6e-114	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG12008-PB	182860	NP_003117	6e-114	EL2;HPP;HS3;SPH3;SPTA1		Elliptocytosis-2, 130600 (3);Pyropoikilocytosis, 266140 (3);Spherocytosis, type 3, 270970 (3)
CG17927-PI	602666	NP_057323	6e-114	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG32451-PA	108740	NP_001129237	7e-114	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG32451-PB	108740	NP_001129237	7e-114	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG12008-PA	182860	NP_003117	7e-114	EL2;HPP;HS3;SPH3;SPTA1		Elliptocytosis-2, 130600 (3);Pyropoikilocytosis, 266140 (3);Spherocytosis, type 3, 270970 (3)
CG7221-PA	605131	NP_057457	7e-114	FOR;WWOX	FRAGILE SITE FRA16D OXIDOREDUCTASE; FOR;WOX1	Esophageal squamous cell carcinoma, 133239 (3)
CG3001-PB	138079	NP_277043	7e-114	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG7563-PB	114240	NP_997629	7e-114	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG32451-PC	108740	NP_001129237	8e-114	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG17927-PD	602666	NP_057323	8e-114	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG6214-PA	601439	NP_005682	9e-114	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PI	601439	NP_005682	9e-114	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PO	601439	NP_005682	9e-114	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PA	601439	NP_064694	9e-114	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PO	601439	NP_064694	9e-114	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG2098-PA	612386	NP_000131	1e-113	FCE;FECH	HEME SYNTHASE;HEME SYNTHETASE;IRON CHELATASE	Protoporphyria, erythropoietic, autosomal dominant, 177000 (3);Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)
CG9761-PA	300550	NP_000435	1e-113	PHEX;HYP;HPDR1	PEX	Hypophosphatemia, X-linked, 307800 (3)
CG31692-PB	611570	NP_000498	1e-113	FBP1	FRUCTOSE-1,6-BISPHOSPHATASE, LIVER;FRUCTOSE-1,6-DIPHOSPHATASE	Fructose-1,6-bidphosphatase deficiency, 229700 (3)
CG31692-PB	611570	NP_001121100	1e-113	FBP1	FRUCTOSE-1,6-BISPHOSPHATASE, LIVER;FRUCTOSE-1,6-DIPHOSPHATASE	Fructose-1,6-bidphosphatase deficiency, 229700 (3)
CG10975-PA	151460	NP_002829	1e-113	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG10160-PA	150000	NP_005557	1e-113	LDHA;LDH1;GSD11	LDH, SUBUNIT M	Glycogen storage disease XI, 612933 (3)
CG6214-PI	601439	NP_064694	1e-113	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG5695-PA	608568	NP_079005	1e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5695-PE	608568	NP_079005	1e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5695-PF	608568	NP_079005	1e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG10975-PB	151460	NP_563578	1e-113	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG7563-PA	114240	NP_997629	1e-113	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG31183-PA	600179	NP_000171	2e-113	CORD6;GUC2D;GUCY2D;LCA1	GUANYLATE CYCLASE 2D, RETINAL;GUC2D;GUCY2E, MOUSE, HOMOLOG OF;RETGC;RETGC1;ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC	Cone-rod dystrophy 6, 601777(3);Leber congenital amaurosis 1, 204000 (3)
CG31692-PA	611570	NP_000498	2e-113	FBP1	FRUCTOSE-1,6-BISPHOSPHATASE, LIVER;FRUCTOSE-1,6-DIPHOSPHATASE	Fructose-1,6-bidphosphatase deficiency, 229700 (3)
CG8681-PB	305915	NP_000819	2e-113	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG31692-PA	611570	NP_001121100	2e-113	FBP1	FRUCTOSE-1,6-BISPHOSPHATASE, LIVER;FRUCTOSE-1,6-DIPHOSPHATASE	Fructose-1,6-bidphosphatase deficiency, 229700 (3)
CG8529-PA	601239	NP_001121647	2e-113	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PB	601239	NP_001121647	2e-113	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PD	601239	NP_001121647	2e-113	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PE	601239	NP_001121647	2e-113	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG15148-PB	603335	NP_001360	2e-113	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG5695-PB	160710	NP_002462	2e-113	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG5695-PC	160710	NP_002462	2e-113	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG12008-PC	182860	NP_003117	2e-113	EL2;HPP;HS3;SPH3;SPTA1		Elliptocytosis-2, 130600 (3);Pyropoikilocytosis, 266140 (3);Spherocytosis, type 3, 270970 (3)
CG7449-PA	602716	NP_004637	2e-113	NPHN;NPHS1	NPHN;RENAL GLOMERULUS-SPECIFIC CELL ADHESION RECEPTOR	Nephrosis-1, congenital, Finnish type, 256300 (3)
CG7449-PB	602716	NP_004637	2e-113	NPHN;NPHS1	NPHN;RENAL GLOMERULUS-SPECIFIC CELL ADHESION RECEPTOR	Nephrosis-1, congenital, Finnish type, 256300 (3)
CG17927-PG	600970	NP_004990	2e-113	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG1709-PG	604592	NP_006010	2e-113	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG5695-PB	608568	NP_079005	2e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5695-PC	608568	NP_079005	2e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG6488-PA	606979	NP_115758	2e-113	COG8;DOR1	DOR1, S. CEREVISIAE, HOMOLOG OF; DOR1	Congenital disorder of glycosylation, type IIh, 611182 (3)
CG10975-PA	151460	NP_563579	2e-113	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG10118-PA	607478	NP_775489	2e-113	NTPH;TPH2	TRYPTOPHAN HYDROXYLASE, NEURONAL; NTPH	{Unipolar depression, susceptibility to}, 608516 (3)
CG1548-PA	116840	NP_001900	3e-113	CLN10;CPSD;CTSD		Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
CG5695-PA	160710	NP_002462	3e-113	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG5695-PE	160710	NP_002462	3e-113	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG5695-PF	160710	NP_002462	3e-113	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG5695-PA	602666	NP_057323	3e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG5695-PB	602666	NP_057323	3e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG5695-PE	602666	NP_057323	3e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG5695-PF	602666	NP_057323	3e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG3298-PB	605367	NP_060597	3e-113	ELAC2;HPC2	RIBONUCLEASE Z, LONG FORM;RNase ZL	{Prostate cancer, susceptibility to}, 176807 (3)
CG10118-PB	607478	NP_775489	3e-113	NTPH;TPH2	TRYPTOPHAN HYDROXYLASE, NEURONAL; NTPH	{Unipolar depression, susceptibility to}, 608516 (3)
CG1830-PB	172471	NP_000285	4e-113	GSD9C;PHKG2		Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc (3)
CG5695-PB	160720	NP_002461	4e-113	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG5695-PC	602666	NP_057323	4e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG31033-PC	610767	NP_060444	4e-113	APG16L;ATG16L1;IBD10	APG16-LIKE; APG16L	{Inflammatory bowel disease 10, susceptibility to}, 611081 (3)
CG5695-PD	608568	NP_079005	4e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG10975-PA	151460	NP_563578	4e-113	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG10335-PA	125270	NP_000022	5e-113	ALAD;ALADH;PBGS	ALADH;PORPHOBILINOGEN SYNTHASE; PBGS	Porphyria, acute hepatic, 612740 (3);{Lead poisoning, susceptibility to}, 612740 (3)
CG9122-PA	191290	NP_000351	5e-113	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG5695-PA	160720	NP_002461	5e-113	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG5695-PC	160720	NP_002461	5e-113	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG5695-PE	160720	NP_002461	5e-113	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG5695-PF	160720	NP_002461	5e-113	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG8557-PB	608136	NP_055444	5e-113	ARHGEF10;KIAA0294	KIAA0294	Slowed nerve conduction velocity, AD, 608236 (3)
CG9122-PA	191290	NP_954987	5e-113	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG17927-PF	602666	NP_057323	6e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG9122-PA	191290	NP_954986	6e-113	TH;TYH		Segawa syndrome, recessive, 605407 (3)
CG5695-PB	608568	NP_001070654	7e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG8529-PC	601239	NP_001383	8e-113	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG16954-PA	118190	NP_002147	8e-113	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG16954-PB	118190	NP_002147	8e-113	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG10261-PA	605437	NP_006246	8e-113	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG10261-PC	605437	NP_006246	8e-113	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG17927-PC	602666	NP_057323	8e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG17927-PH	602666	NP_057323	8e-113	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG16954-PA	118190	NP_955472	8e-113	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG16954-PB	118190	NP_955472	8e-113	HLD4;HSP60;HSPD1;SPG13	CHAPERONIN, 60-KD; CPN60;GroEL, E. COLI, HOMOLOG OF;HSP60	Leukodystrophy, hypomyelinating, 4, 612233 (3);Spastic paraplegia-13, 605280 (3)
CG5695-PA	608568	NP_001070654	9e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5695-PE	608568	NP_001070654	9e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5695-PF	608568	NP_001070654	9e-113	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG5695-PD	160710	NP_002462	9e-113	ASD3;MYH6;MYHCA	MYH, CARDIAC; MYHC;MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA	Atrial septal defect 3 (3);Cardiomyopathy, familial hypertrophic, 192600 (3)
CG9232-PA	606999	NP_000146	1e-112	GALT		Galactosemia, 230400 (3)
CG12787-PA	611409	NP_000266	1e-112	BOCA;D15S12;EYCL3;HCL3;OCA2;P;PED;SHEP1	P GENE;PINK-EYED DILUTION; PED	Albinism, brown oculocutaneous, 203200 (3);Albinism, oculocutaneous, type II, 203200 (3);[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3);[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
CG10079-PA	164870	NP_001005862	1e-112	ERBB2;HER2;NEU;NGL	HER2;NEU;ONCOGENE ERBB2;ONCOGENE NGL, NEUROBLASTOMA- OR GLIOBLASTOMA-DERIVED; NGL;TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER2; TKR1	Adenocarcinoma of lung, somatic, 211980 (3);Gastric cancer, somatic, 137215 (3);Glioblastoma, somatic, 137800 (3);Ovarian cancer, somatic, (3)
CG5695-PC	608568	NP_001070654	1e-112	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG14026-PC	190181	NP_001124388	1e-112	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG9176-PB	123825	NP_001136036	1e-112	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG10079-PA	164870	NP_004439	1e-112	ERBB2;HER2;NEU;NGL	HER2;NEU;ONCOGENE ERBB2;ONCOGENE NGL, NEUROBLASTOMA- OR GLIOBLASTOMA-DERIVED; NGL;TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER2; TKR1	Adenocarcinoma of lung, somatic, 211980 (3);Gastric cancer, somatic, 137215 (3);Glioblastoma, somatic, 137800 (3);Ovarian cancer, somatic, (3)
CG30463-PA	601756	NP_004473	1e-112	GALNT3;HFTC;HHS	3; GALNT3;GalNAc TRANSFERASE 3; GalNAcT3;POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3	Hyperostosis-hyperphosphatemia syndrome, 610233 (3);Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
CG30463-PB	601756	NP_004473	1e-112	GALNT3;HFTC;HHS	3; GALNT3;GalNAc TRANSFERASE 3; GalNAcT3;POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3	Hyperostosis-hyperphosphatemia syndrome, 610233 (3);Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
CG31651-PB	601756	NP_004473	1e-112	GALNT3;HFTC;HHS	3; GALNT3;GalNAc TRANSFERASE 3; GalNAcT3;POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3	Hyperostosis-hyperphosphatemia syndrome, 610233 (3);Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
CG10261-PE	605437	NP_006246	1e-112	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG10261-PF	605437	NP_006246	1e-112	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG8557-PA	608136	NP_055444	1e-112	ARHGEF10;KIAA0294	KIAA0294	Slowed nerve conduction velocity, AD, 608236 (3)
CG17927-PA	602666	NP_057323	1e-112	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG10079-PB	164870	NP_001005862	2e-112	ERBB2;HER2;NEU;NGL	HER2;NEU;ONCOGENE ERBB2;ONCOGENE NGL, NEUROBLASTOMA- OR GLIOBLASTOMA-DERIVED; NGL;TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER2; TKR1	Adenocarcinoma of lung, somatic, 211980 (3);Gastric cancer, somatic, 137215 (3);Glioblastoma, somatic, 137800 (3);Ovarian cancer, somatic, (3)
CG5695-PD	608568	NP_001070654	2e-112	DFNA4;KIAA2034;MYH14	KIAA2034;NMHC IIC;NONMUSCLE MYOSIN HEAVY CHAIN IIC	Deafness, autosomal dominant 4, 600652 (3)
CG14026-PA	190181	NP_001124388	2e-112	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG14026-PB	190181	NP_001124388	2e-112	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG14026-PD	190181	NP_001124388	2e-112	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG9176-PC	123825	NP_001136036	2e-112	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG5549-PA	300036	NP_001136277	2e-112	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG10079-PB	164870	NP_004439	2e-112	ERBB2;HER2;NEU;NGL	HER2;NEU;ONCOGENE ERBB2;ONCOGENE NGL, NEUROBLASTOMA- OR GLIOBLASTOMA-DERIVED; NGL;TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER2; TKR1	Adenocarcinoma of lung, somatic, 211980 (3);Gastric cancer, somatic, 137215 (3);Glioblastoma, somatic, 137800 (3);Ovarian cancer, somatic, (3)
CG9176-PC	123825	NP_000078	3e-112	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG8996-PA	608053	NP_000117	3e-112	ETFA;GA2;MADD		Glutaricaciduria, type IIA, 231680 (3)
CG8996-PB	608053	NP_000117	3e-112	ETFA;GA2;MADD		Glutaricaciduria, type IIA, 231680 (3)
CG12787-PB	611409	NP_000266	3e-112	BOCA;D15S12;EYCL3;HCL3;OCA2;P;PED;SHEP1	P GENE;PINK-EYED DILUTION; PED	Albinism, brown oculocutaneous, 203200 (3);Albinism, oculocutaneous, type II, 203200 (3);[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3);[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
CG12787-PC	611409	NP_000266	3e-112	BOCA;D15S12;EYCL3;HCL3;OCA2;P;PED;SHEP1	P GENE;PINK-EYED DILUTION; PED	Albinism, brown oculocutaneous, 203200 (3);Albinism, oculocutaneous, type II, 203200 (3);[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3);[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
CG12787-PD	611409	NP_000266	3e-112	BOCA;D15S12;EYCL3;HCL3;OCA2;P;PED;SHEP1	P GENE;PINK-EYED DILUTION; PED	Albinism, brown oculocutaneous, 203200 (3);Albinism, oculocutaneous, type II, 203200 (3);[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3);[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
CG12787-PE	611409	NP_000266	3e-112	BOCA;D15S12;EYCL3;HCL3;OCA2;P;PED;SHEP1	P GENE;PINK-EYED DILUTION; PED	Albinism, brown oculocutaneous, 203200 (3);Albinism, oculocutaneous, type II, 203200 (3);[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3);[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
CG12787-PF	611409	NP_000266	3e-112	BOCA;D15S12;EYCL3;HCL3;OCA2;P;PED;SHEP1	P GENE;PINK-EYED DILUTION; PED	Albinism, brown oculocutaneous, 203200 (3);Albinism, oculocutaneous, type II, 203200 (3);[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3);[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
CG5695-PD	160720	NP_002461	3e-112	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG31201-PB	305915	NP_015564	3e-112	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG5695-PD	602666	NP_057323	3e-112	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG6214-PD	601439	NP_064694	3e-112	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG9176-PB	123825	NP_000078	4e-112	CNGA1;CNCG1;RP49	CNCG;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT	Retinitis pigmentosa-49 (3)
CG5870-PA	102573	NP_001094	4e-112	ACTN2;CMD1AA		Cardiomyopathy, dilated, 1AA, 612158 (3)
CG6214-PJ	601439	NP_064694	4e-112	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG5731-PA	300644	NP_000160	5e-112	GLA	ALPHA-GALACTOSIDASE A; GALA	Fabry disease, 301500 (3);Fabry disease, cardiac variant, 301500 (3)
CG8948-PA	300127	NP_002538	5e-112	OPHN1;MRX60	OPN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
CG8948-PB	300127	NP_002538	5e-112	OPHN1;MRX60	OPN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
CG8948-PC	300127	NP_002538	5e-112	OPHN1;MRX60	OPN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
CG8948-PD	300127	NP_002538	5e-112	OPHN1;MRX60	OPN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
CG8948-PE	300127	NP_002538	5e-112	OPHN1;MRX60	OPN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
CG8948-PF	300127	NP_002538	5e-112	OPHN1;MRX60	OPN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
CG6214-PD	601439	NP_005682	5e-112	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PJ	601439	NP_005682	5e-112	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG7438-PA	160741	NP_002463	6e-112	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG7438-PB	160741	NP_002463	6e-112	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG15792-PD	606808	NP_059129	6e-112	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG15792-PC	606808	NP_059129	7e-112	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG8529-PE	601239	NP_001383	8e-112	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG7075-PA	182138	NP_001036	9e-112	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG6214-PM	601439	NP_064694	9e-112	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG5695-PA	160760	NP_000248	1e-111	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG5695-PB	160760	NP_000248	1e-111	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG5695-PC	160760	NP_000248	1e-111	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG5695-PE	160760	NP_000248	1e-111	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG5695-PF	160760	NP_000248	1e-111	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG10231-PA	180071	NP_000431	1e-111	PDE6A;PDEA;RP43	RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, ALPHA SUBUNIT; PDEA	Retinitis pigmentosa-43 (3)
CG18076-PH	601282	NP_000436	1e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG7075-PA	163970	NP_001034	1e-111	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG31116-PC	602024	NP_001036169	1e-111	CLCNKA	CLCK1	Bartter syndrome, type 4, digenic, 602522 (3)
CG31116-PD	602024	NP_001036169	1e-111	CLCNKA	CLCK1	Bartter syndrome, type 4, digenic, 602522 (3)
CG5695-PA	160740	NP_001093582	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PB	160740	NP_001093582	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PC	160740	NP_001093582	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PE	160740	NP_001093582	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PF	160740	NP_001093582	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG8529-PA	601239	NP_001383	1e-111	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PB	601239	NP_001383	1e-111	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG8529-PD	601239	NP_001383	1e-111	D18S892E;DRP3;DTNA;LVNC1	D18S892E;DYSTROBREVIN;DYSTROPHIN-RELATED PROTEIN 3; DRP3	Left ventricular noncompaction with congenital heart defects, 606617 (3);Left ventricular noncompaction, familial isolated, 1, 604169 (3)
CG31116-PC	602024	NP_004061	1e-111	CLCNKA	CLCK1	Bartter syndrome, type 4, digenic, 602522 (3)
CG1698-PA	604159	NP_004202	1e-111	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG2146-PA	601478	NP_005370	1e-111	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG6214-PH	601439	NP_005682	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PM	601439	NP_005682	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG17927-PE	602666	NP_057323	1e-111	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG17927-PG	602666	NP_057323	1e-111	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG5695-PA	160740	NP_060004	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PB	160740	NP_060004	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PC	160740	NP_060004	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PE	160740	NP_060004	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PF	160740	NP_060004	1e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG6214-PP	601439	NP_064693	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PQ	601439	NP_064693	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PC	601439	NP_064694	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PF	601439	NP_064694	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PH	601439	NP_064694	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PK	601439	NP_064694	1e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG18076-PH	601282	NP_958782	1e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG31116-PA	602024	NP_001036169	2e-111	CLCNKA	CLCK1	Bartter syndrome, type 4, digenic, 602522 (3)
CG11796-PB	609695	NP_002141	2e-111	HPD	4-@HYDROXYPHENYLPYRUVIC ACID OXIDASE	Hawkinsinuria, 140350 (3);Tyrosinemia, type III, 276710 (3)
CG10691-PA	176705	NP_002625	2e-111	PHB	PHB1	Breast cancer, sporadic (3)
CG10691-PB	176705	NP_002625	2e-111	PHB	PHB1	Breast cancer, sporadic (3)
CG31116-PA	602024	NP_004061	2e-111	CLCNKA	CLCK1	Bartter syndrome, type 4, digenic, 602522 (3)
CG31116-PD	602024	NP_004061	2e-111	CLCNKA	CLCK1	Bartter syndrome, type 4, digenic, 602522 (3)
CG2146-PB	601478	NP_005370	2e-111	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG2146-PC	601478	NP_005370	2e-111	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG6214-PB	601439	NP_005682	2e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PF	601439	NP_005682	2e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PK	601439	NP_005682	2e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG4376-PB	604985	NP_008877	2e-111	SPTBN2;SCA5	GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41;SPECTRIN, BETA-III	Spinocerebellar ataxia-5, 600224 (3)
CG9155-PA	606808	NP_059129	2e-111	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG9155-PB	606808	NP_059129	2e-111	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG9155-PC	606808	NP_059129	2e-111	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG6214-PB	601439	NP_064694	2e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG18076-PH	601282	NP_958781	2e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PH	601282	NP_958783	2e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PH	601282	NP_958784	2e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PH	601282	NP_958785	2e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PH	601282	NP_958786	2e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG6214-PC	601439	NP_005682	3e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG4376-PA	604985	NP_008877	3e-111	SPTBN2;SCA5	GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41;SPECTRIN, BETA-III	Spinocerebellar ataxia-5, 600224 (3)
CG4542-PA	608103	NP_076984	3e-111	ALG8	ALG8;DOLICHYL-P-GLUCOSE:Glc-1-Man-9-GlcNAc-2-PP-DOLICHYL-ALPHA-3-GLUCOSYLTRANSFERASE	Congenital disorder of glycosylation, type Ih, 608104 (3)
CG32134-PA	176943	NP_001138386	4e-111	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_001138386	4e-111	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG9155-PD	606808	NP_059129	4e-111	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG18076-PH	601282	NP_958780	4e-111	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG14026-PC	102576	NP_001096	5e-111	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG14026-PC	102576	NP_001104537	5e-111	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG17922-PA	600724	NP_001288	5e-111	CNCG2;CNCG3L;CNGB1;RP45	CNCG3L;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 2; CNCG2;CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 3-LIKE;;GLUTAMIC ACID-RICH PROTEIN 1; GAR1; GARP;RETINAL ROD cGMP-GATED CHANNEL, BETA SUBUNIT;RETINAL ROD cGMP-GATED CHANNEL, GAMMA SUBUNIT	Retinitis pigmentosa-45, 268000 (3)
CG5695-PD	160760	NP_000248	6e-111	CMD1S;CMH1;MPD1;MYH7;SPMD;SPMM	MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB	Cardiomyopathy, dilated, 1S (3);Cardiomyopathy, familial hypertrophic, 1, 192600 (3);Myopathy, Laing distal, 160500 (3);Myopathy, myosin storage, 608358 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3)
CG1732-PB	182138	NP_001036	6e-111	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG18278-PA	607664	NP_002067	6e-111	GNS;G6S	GLUCOSAMINE-6-SULFATASE; G6S	Mucopolysaccharidosis type IIID, 252940 (3)
CG6214-PL	601439	NP_005682	6e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PE	601439	NP_064694	6e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PL	601439	NP_064694	6e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11949-PA	130500	NP_976218	6e-111	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG31201-PB	305915	NP_000819	7e-111	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG5695-PD	160740	NP_001093582	7e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG5695-PD	160740	NP_060004	7e-111	MYH2	MHC IIa;MYHC IIa;MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2	Inclusion body myopathy-3, 605637 (3)
CG8625-PA	608892	NP_060250	7e-111	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG8625-PB	608892	NP_060250	7e-111	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG8625-PC	608892	NP_060250	7e-111	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG6214-PG	601439	NP_064694	7e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PG	601439	NP_005682	8e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG8909-PB	192977	NP_003374	9e-111	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG6214-PN	601439	NP_064694	9e-111	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG14026-PA	102576	NP_001096	1e-110	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG14026-PB	102576	NP_001096	1e-110	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG14026-PD	102576	NP_001096	1e-110	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG14026-PA	102576	NP_001104537	1e-110	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG14026-PB	102576	NP_001104537	1e-110	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG14026-PD	102576	NP_001104537	1e-110	ACVR1;ACVRLK2;ALK2;FOP	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2	Fibrodysplasia ossificans progressiva, 135100 (3)
CG4545-PA	300036	NP_001136277	1e-110	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG6214-PE	601439	NP_005682	1e-110	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PN	601439	NP_005682	1e-110	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG11949-PB	130500	NP_976218	1e-110	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG6798-PA	118503	NP_000734	2e-110	CHRNA3;LNCR2;PAOD2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-3 SUBUNIT	{Lung cancer susceptibility 2}, 612052 (3)
CG6798-PA	118507	NP_000739	2e-110	CHRNB2;EFNL3	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
CG17927-PE	606808	NP_059129	2e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG10718-PA	605995	NP_904325	2e-110	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG11949-PC	130500	NP_976218	2e-110	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG7356-PB	134570	NP_000120	3e-110	F13A;F13A1	F13A;FIBRIN STABILIZING FACTOR, A SUBUNIT;FIBRINOLIGASE;FSF, A SUBUNIT;TRANSGLUTAMINASE, PLASMA	Factor XIIIA deficiency (3)
CG15444-PB	300036	NP_001136277	3e-110	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG15444-PC	300036	NP_001136277	3e-110	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG15444-PD	300036	NP_001136277	3e-110	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG7438-PA	600970	NP_004990	3e-110	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG7438-PB	600970	NP_004990	3e-110	DFNA22;DFNB37;MYO6		Deafness, autosomal dominant 22, 606346 (3);Deafness, autosomal recessive 37, 607821 (3);Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)
CG17927-PJ	606808	NP_059129	3e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG10952-PB	152427	NP_742053	3e-110	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG11949-PD	130500	NP_976218	3e-110	EL1;EPB41	EL1 GENE;PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R	Elliptocytosis-1, 611804 (3)
CG6383-PA	600276	NP_000426	4e-110	CADASIL;CASIL;NOTCH3		Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3)
CG18076-PC	601282	NP_000436	4e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG12317-PA	603593	NP_001119577	4e-110	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG12317-PB	603593	NP_001119577	4e-110	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG12317-PA	603593	NP_001119578	4e-110	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG12317-PB	603593	NP_001119578	4e-110	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG7948-PB	179617	NP_002866	4e-110	RAD51A;RECA	RAD51, S. CEREVISIAE, HOMOLOG OF, A; RAD51A;RECA, E. COLI, HOMOLOG OF;RECOMBINATION PROTEIN A; RECA	{Breast cancer, susceptibility to}, 114480 (3)
CG12736-PA	602389	NP_003312	4e-110	COXPD4;EFTU;TUFM	EF-Tu, MITOCHONDRIAL;EF-TuMT;MITOCHONDRIAL TRANSLATION ELONGATION FACTOR Tu	Combined oxidative phosphorylation deficiency 4, 610678 (3)
CG12317-PA	603593	NP_003973	4e-110	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG12317-PB	603593	NP_003973	4e-110	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG17927-PG	606808	NP_059129	4e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG17927-PH	606808	NP_059129	4e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG17927-PI	606808	NP_059129	4e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG18076-PC	601282	NP_958782	4e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PC	601282	NP_958786	4e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG8107-PA	114240	NP_997629	4e-110	CAPN3;CANP3	CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT;;CALPAIN III, LARGE SUBUNIT; CANPL3;CALPAIN, LARGE POLYPEPTIDE L3;CANP3;p94	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CG7100-PG	605516	NP_071407	5e-110	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG31094-PB	602600	NP_150643	5e-110	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG18076-PC	601282	NP_958781	5e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PC	601282	NP_958783	5e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG18076-PC	601282	NP_958785	5e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG17927-PD	606808	NP_059129	6e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG7100-PE	605516	NP_071407	6e-110	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG31094-PA	602600	NP_150643	6e-110	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG10952-PA	152427	NP_742053	6e-110	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG18076-PC	601282	NP_958780	6e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG8850-PB	604159	NP_004202	7e-110	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG17927-PC	606808	NP_059129	7e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG18076-PC	601282	NP_958784	7e-110	EBS1;PLEC1;PLTN	PCN; PLTN	Epidermolysis bullosa simplex with pyloric atresia, 612138 (3);Epidermolysis bullosa simplex, Ogna type, 131950 (3);Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)
CG15444-PA	300036	NP_001136277	8e-110	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG30059-PA	607664	NP_002067	8e-110	GNS;G6S	GLUCOSAMINE-6-SULFATASE; G6S	Mucopolysaccharidosis type IIID, 252940 (3)
CG5226-PA	604159	NP_004202	8e-110	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG17927-PA	606808	NP_059129	8e-110	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG7438-PA	160720	NP_002461	9e-110	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG7438-PB	160720	NP_002461	9e-110	MYH3	MYHC-EMB;MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1	Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3)
CG5695-PA	160741	NP_002463	1e-109	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG5695-PE	160741	NP_002463	1e-109	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG5695-PF	160741	NP_002463	1e-109	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG8850-PA	604159	NP_004202	1e-109	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG17927-PB	606808	NP_059129	1e-109	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG7223-PA	136350	NP_075599	1e-109	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PB	136350	NP_075599	1e-109	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7223-PC	136350	NP_075599	1e-109	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG7356-PA	134570	NP_000120	2e-109	F13A;F13A1	F13A;FIBRIN STABILIZING FACTOR, A SUBUNIT;FIBRINOLIGASE;FSF, A SUBUNIT;TRANSGLUTAMINASE, PLASMA	Factor XIIIA deficiency (3)
CG32849-PA	142600	NP_000179	2e-109	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG7010-PB	300502	NP_000275	2e-109	PDHA1;PHE1A	PDHA;PDHCE1A;PHE1A	Leigh syndrome, X-linked, 308930 (3);Pyruvate dehydrogenase deficiency, 312170 (3)
CG7665-PA	603372	NP_000360	2e-109	CHNG1;TSHR	LGR3;THYROTROPIN RECEPTOR	Hyperthyroidism, familial gestational, 603373 (3);Hyperthyroidism, nonautoimmune, 609152 (3);Hypothyroidism, congenital, nongoitrous, 1 275200 (3);Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3)
CG7665-PB	603372	NP_000360	2e-109	CHNG1;TSHR	LGR3;THYROTROPIN RECEPTOR	Hyperthyroidism, familial gestational, 603373 (3);Hyperthyroidism, nonautoimmune, 609152 (3);Hypothyroidism, congenital, nongoitrous, 1 275200 (3);Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3)
CG6844-PA	118503	NP_000734	2e-109	CHRNA3;LNCR2;PAOD2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-3 SUBUNIT	{Lung cancer susceptibility 2}, 612052 (3)
CG6844-PB	118503	NP_000734	2e-109	CHRNA3;LNCR2;PAOD2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-3 SUBUNIT	{Lung cancer susceptibility 2}, 612052 (3)
CG1891-PA	190181	NP_001124388	2e-109	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG1891-PB	190181	NP_001124388	2e-109	AAT5;ALK5;LDS1A;LDS2A;TGFBR1	ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5	Loeys-Dietz syndrome, type 1A, 609192 (3);Loeys-Dietz syndrome, type 2A, 608967 (3)
CG1891-PB	603248	NP_001194	2e-109	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG5695-PB	160741	NP_002463	2e-109	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG5695-PC	160741	NP_002463	2e-109	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG6264-PA	607854	NP_004174	2e-109	ARB;BEST1;VMD2	TU15B;VMD2 GENE	Best macular dystrophy, 153700 (3);Bestrophinopathy, 611809 (3);Maculopathy, bull's-eye (3);Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3);Vitelliform macular dystrophy, adult-onset, 608161 (3);Vitreoretinochoroidopathy, 193220 (3)
CG6822-PA	601567	NP_005561	2e-109	ERGIC53;F5F8D;LMAN1;MCFD1	ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT 53; ERGIC53;INTRACELLULAR MANNOSE SPECIFIC LECTIN; MR60	Combined factor V and VIII deficiency, 227300 (3)
CG6822-PB	601567	NP_005561	2e-109	ERGIC53;F5F8D;LMAN1;MCFD1	ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT 53; ERGIC53;INTRACELLULAR MANNOSE SPECIFIC LECTIN; MR60	Combined factor V and VIII deficiency, 227300 (3)
CG10718-PA	605995	NP_055889	2e-109	CMT2A;CMT2A1;KIF1B		Charcot-Marie-Tooth disease, type 2A1, 118210 (3);Neuroblastoma, 256700 (3);Pheochromocytoma, 171300 (3)
CG17927-PK	606808	NP_059129	2e-109	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG17927-PM	606808	NP_059129	2e-109	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG4226-PA	138244	NP_068775	2e-109	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG4226-PB	138244	NP_068775	2e-109	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG31092-PA	602600	NP_150643	2e-109	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG3803-PA	603646	NP_510870	2e-109	COX15	COX15, S. CEREVISIAE, HOMOLOG OF	Cardiomyopathy, hypertrophic, early-onset fatal (3);Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CG6465-PA	104620	NP_000657	3e-109	ACY1;ACY1D	ACYLASE;N-ACYL-L-AMINO ACID AMIDOHYDROLASE	Aminoacylase 1 deficiency, 609924 (3)
CG1891-PA	603248	NP_001194	3e-109	ALK6;BMPR1B	ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6	Brachydactyly, type A2, 112600 (3);Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
CG18039-PA	305915	NP_015564	3e-109	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG7100-PB	605516	NP_071407	3e-109	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG32849-PA	142600	NP_277031	3e-109	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG32849-PA	142600	NP_277032	3e-109	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG32849-PA	142600	NP_277033	3e-109	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG32849-PA	142600	NP_277035	3e-109	HK1		Hemolytic anemia due to hexokinase deficiency, 235700 (3)
CG1954-PA	176980	NP_002730	4e-109	PKCC;PKCG;PRKCG;SCA14	PKCC; PKCG	Spinocerebellar ataxia 14, 605361 (3)
CG17927-PJ	602666	NP_057323	4e-109	DFNB3;MYO15A	MYOSIN XV; MYO15	Deafness, autosomal recessive 3, 600316 (3)
CG7100-PH	605516	NP_071407	4e-109	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG8909-PB	192977	NP_001018066	5e-109	CHRMQ1;VLDLR		Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, 224050 (3)
CG10261-PD	605437	NP_006246	5e-109	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG31092-PB	602600	NP_150643	5e-109	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG7075-PA	126455	NP_001035	6e-109	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG12176-PA	601837	NP_001091738	6e-109	LIG4	DNA LIGASE IV	LIG4 syndrome, 606593 (3);{Multiple myeloma, resistance to}, 254500 (3)
CG12176-PA	601837	NP_002303	6e-109	LIG4	DNA LIGASE IV	LIG4 syndrome, 606593 (3);{Multiple myeloma, resistance to}, 254500 (3)
CG15279-PC	604159	NP_004202	6e-109	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG10261-PB	605437	NP_006246	6e-109	PRKCH;PKCL;PRKCL	PKCL; PRKCL	{Cerebral infarction, susceptibility to}, 601367 (3)
CG12176-PA	601837	NP_996820	6e-109	LIG4	DNA LIGASE IV	LIG4 syndrome, 606593 (3);{Multiple myeloma, resistance to}, 254500 (3)
CG17927-PF	606808	NP_059129	7e-109	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG6598-PA	103730	NP_000660	8e-109	ADH1C;ADH3	ADH, GAMMA SUBUNIT; ADH1C;ALCOHOL DEHYDROGENASE 3	{Parkinson disease, susceptibility to}, 168600 (3)
CG1732-PB	300036	NP_001136277	8e-109	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG5695-PD	160741	NP_002463	8e-109	MYH8	MYHC-PERI;MYHC-PN;MYOSIN, HEAVY CHAIN, PERINATAL	Carney complex variant, 608837 (3);Trismus-pseudocamptodactyly syndrome, 158300 (3)
CG7438-PA	606808	NP_059129	9e-109	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG7438-PB	606808	NP_059129	9e-109	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG6193-PA	611731	NP_000029	1e-108	APC;BTPS2;FPC;GS	DELETED IN POLYPOSIS 2.5; DP2.5	Adenoma, periampullary (3);Adenomatous polyposis coli, 175100 (3);Brain tumor-polyposis syndrome 2 (3);Colorectal cancer, somatic, 114500 (3);Desmoid disease, hereditary, 135290 (3);Gardner syndrome (3);Gastric cancer, somatic, 137215 (3);Hepatoblastoma (3)
CG6193-PA	611731	NP_001120982	1e-108	APC;BTPS2;FPC;GS	DELETED IN POLYPOSIS 2.5; DP2.5	Adenoma, periampullary (3);Adenomatous polyposis coli, 175100 (3);Brain tumor-polyposis syndrome 2 (3);Colorectal cancer, somatic, 114500 (3);Desmoid disease, hereditary, 135290 (3);Gardner syndrome (3);Gastric cancer, somatic, 137215 (3);Hepatoblastoma (3)
CG6193-PA	611731	NP_001120983	1e-108	APC;BTPS2;FPC;GS	DELETED IN POLYPOSIS 2.5; DP2.5	Adenoma, periampullary (3);Adenomatous polyposis coli, 175100 (3);Brain tumor-polyposis syndrome 2 (3);Colorectal cancer, somatic, 114500 (3);Desmoid disease, hereditary, 135290 (3);Gardner syndrome (3);Gastric cancer, somatic, 137215 (3);Hepatoblastoma (3)
CG8298-PA	300474	NP_001121599	1e-108	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG4476-PB	604159	NP_004202	1e-108	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG7069-PA	609712	NP_000289	2e-108	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG5656-PA	171760	NP_000469	2e-108	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG6798-PA	118502	NP_000733	2e-108	CHRNA2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CG1732-PB	126455	NP_001035	2e-108	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG5656-PA	171760	NP_001120973	2e-108	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG10166-PA	603503	NP_003850	2e-108	CDGIE;DPM1;MPDS	DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 1;DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 1;MPD SYNTHASE; MPDS	Congenital disorder of glycosylation, type Ie, 608799 (3)
CG15792-PA	606808	NP_059129	2e-108	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG7100-PK	605516	NP_071407	2e-108	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG7100-PL	605516	NP_071407	2e-108	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG7069-PA	609712	NP_870986	2e-108	PK1;PKLR	PKRL;PYRUVATE KINASE 1; PK1;PYRUVATE KINASE, LIVER TYPE; PKL;PYRUVATE KINASE, RED CELL TYPE; PKR	Adenosine triphosphate, elevated, of erythrocytes, 102900 (3);Pyruvate kinase deficiency, 266200 (3)
CG15792-PB	606808	NP_059129	3e-108	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG32094-PA	602997	NP_001072	6e-108	CUBN;IFCR;MGA1	INTRINSIC FACTOR-COBALAMIN RECEPTOR; IFCR	Megaloblastic anemia-1, Finnish type, 261100 (3)
CG4376-PC	604985	NP_008877	7e-108	SPTBN2;SCA5	GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41;SPECTRIN, BETA-III	Spinocerebellar ataxia-5, 600224 (3)
CG9887-PA	607557	NP_001138760	8e-108	DFNA25;SLC17A8;VGLUT3	8; SLC17A8;VESICULAR GLUTAMATE TRANSPORTER 3; VGLUT3	Deafness, autosomal dominant 25, 605583 (3)
CG1891-PB	601299	NP_004320	9e-108	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG6214-PQ	601439	NP_005682	9e-108	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG5942-PA	608892	NP_060250	9e-108	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG5942-PB	608892	NP_060250	9e-108	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG5942-PC	608892	NP_060250	9e-108	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG5942-PD	608892	NP_060250	9e-108	CHD7;IS3;KAL5	KIAA1416	CHARGE syndrome, 214800 (3);Hypogonadotropic hypogonadism, 146110 (3);Kallmann syndrome 5, 612370 (3);{Scoliosis, idiopathic 3}, 608765 (3)
CG6214-PP	601439	NP_064694	9e-108	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG6214-PQ	601439	NP_064694	9e-108	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG10117-PA	608210	NP_997005	9e-108	EXT2		Exostoses, multiple, type 2, 133701 (3)
CG10117-PA	608210	NP_000392	1e-107	EXT2		Exostoses, multiple, type 2, 133701 (3)
CG9374-PA	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG9374-PB	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG9374-PC	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG9374-PD	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG9374-PE	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG9374-PF	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG9374-PH	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG9374-PI	602216	NP_000446	1e-107	LKB1;PJS;STK11	LKB1	Melanoma, malignant sporadic (3);Pancreatic cancer, sporadic (3);Peutz-Jeghers syndrome, 175200 (3);Testicular tumor, sporadic, 273300 (3)
CG11348-PA	118503	NP_000734	1e-107	CHRNA3;LNCR2;PAOD2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-3 SUBUNIT	{Lung cancer susceptibility 2}, 612052 (3)
CG11140-PA	609523	NP_001026976	1e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PB	609523	NP_001026976	1e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PC	609523	NP_001026976	1e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PD	609523	NP_001026976	1e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG3299-PA	193065	NP_003364	1e-107	CMD1W;VCL		Cardiomyopathy, dilated, 1W, 611407 (3)
CG1891-PA	601299	NP_004320	1e-107	ACVRLK3;ALK3;BMPR1A	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3	Juvenile polyposis syndrome, infantile form, 174900 (3);Polyposis syndrome, hereditary mixed, 2, 610069 (3);Polyposis, juvenile intestinal, 174900 (3)
CG6214-PP	601439	NP_005682	1e-107	ABCC9;CMD1O;SUR2	SULFONYLUREA RECEPTOR 2; SUR2	Cardiomyopathy, dilated, 1O, 608569 (3)
CG17927-PL	606808	NP_059129	1e-107	DFNB30;MYO3A		Deafness, autosomal recessive 30, 607101 (3)
CG11140-PA	609523	NP_000373	2e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PB	609523	NP_000373	2e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PC	609523	NP_000373	2e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PD	609523	NP_000373	2e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PF	609523	NP_001026976	2e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PG	609523	NP_001026976	2e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG6661-PA	606811	NP_003739	2e-107	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG6385-PA	605849	NP_037523	2e-107	DMGDH;DMGDHD		Dimethylglycine dehydrogenase deficiency, 605850 (3)
CG3299-PA	193065	NP_054706	2e-107	CMD1W;VCL		Cardiomyopathy, dilated, 1W, 611407 (3)
CG6661-PA	606811	NP_733844	2e-107	ALDH4A1;ALDH4;P5CDH	ALDEHYDE DEHYDROGENASE 4; ALDH4;P5CD;PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH	Hyperprolinemia, type II, 239510 (3)
CG11140-PF	609523	NP_000373	3e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG11140-PG	609523	NP_000373	3e-107	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG10443-PA	151460	NP_002829	3e-107	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG10701-PD	607379	NP_861966	3e-107	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PE	607379	NP_861966	3e-107	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PF	607379	NP_861966	3e-107	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PG	607379	NP_861966	3e-107	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PH	607379	NP_861966	3e-107	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PI	607379	NP_861966	3e-107	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG31116-PC	602023	NP_000076	4e-107	CLCNKB	CLCKB	Bartter syndrome, type 3, 607364 (3);Bartter syndrome, type 4, digenic, 602522 (3)
CG7997-PA	300644	NP_000160	4e-107	GLA	ALPHA-GALACTOSIDASE A; GALA	Fabry disease, 301500 (3);Fabry disease, cardiac variant, 301500 (3)
CG7997-PB	300644	NP_000160	4e-107	GLA	ALPHA-GALACTOSIDASE A; GALA	Fabry disease, 301500 (3);Fabry disease, cardiac variant, 301500 (3)
CG10443-PA	151460	NP_563579	4e-107	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG31116-PD	602023	NP_000076	5e-107	CLCNKB	CLCKB	Bartter syndrome, type 3, 607364 (3);Bartter syndrome, type 4, digenic, 602522 (3)
CG33087-PC	606945	NP_000518	5e-107	FH;FHC;LDLCQ2;LDLR	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	Hypercholesterolemia, familial, 143890 (3)
CG5287-PA	191350	NP_001373	5e-107	DGPT;DPAGT2	DPAGT2;GlcNAc-1-P TRANSFERASE;UDP-GlcNAc:DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE	Congenital disorder of glycosylation, type Ij, 608093 (3)
CG31116-PA	602023	NP_000076	6e-107	CLCNKB	CLCKB	Bartter syndrome, type 3, 607364 (3);Bartter syndrome, type 4, digenic, 602522 (3)
CG18039-PA	305915	NP_000819	6e-107	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG4226-PA	138244	NP_786944	6e-107	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG4226-PB	138244	NP_786944	6e-107	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG1543-PB	609312	NP_000778	8e-107	DBH	DOPAMINE BETA-MONOOXYGENASE	Dopamine beta-hydroxylase deficiency, 223360 (3);Parkinson disease, resistance to, 168600 (3);[Dopamine-beta-hydroxylase activity levels, plasma] (3)
CG9138-PA	600275	NP_077719	8e-107	NOTCH2;AGS2		Alagille syndrome 2, 610205 (3)
CG4376-PB	182870	NP_000338	9e-107	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG6052-PA	600046	NP_005493	9e-107	ABC1;ABCA1;HDLDT1;TGD	ABC TRANSPORTER 1;ATP-BINDING CASSETTE 1; ABC1;ATP-BINDING CASSETTE TRANSPORTER 1;CHOLESTEROL EFFLUX REGULATORY PROTEIN; CERP;CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION;HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	HDL deficiency, type 2, 604091 (3);Tangier disease, 205400 (3);{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
CG4376-PA	182870	NP_000338	1e-106	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG8147-PA	171760	NP_000469	1e-106	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG8147-PB	171760	NP_000469	1e-106	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG6415-PA	238310	NP_000472	1e-106	AMT;GCE;NKH	GLYCINE CLEAVAGE SYSTEM T PROTEIN; GCST	Glycine encephalopathy, 605899 (3)
CG8147-PA	171760	NP_001120973	1e-106	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG8147-PB	171760	NP_001120973	1e-106	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG2316-PF	170995	NP_002849	1e-106	ABCD3;PMP70;PXMP1	PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70	Zellweger syndrome-2 (3)
CG4032-PA	190090	NP_005408	1e-106	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG8224-PA	601300	NP_064733	1e-106	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG4032-PA	190090	NP_938033	1e-106	ASV;SRC;SRC1	AVIAN SARCOMA VIRUS; ASV;ONCOGENE SRC;PROTOONCOGENE SRC;SRC ONCOGENE	Colon cancer, advanced (3)
CG11186-PA	607108	NP_000271	2e-106	AN2;MGDA;PAX6		Aniridia, 106210 (3);Cataract with late-onset corneal dystrophy, 604219 (3);Coloboma of optic nerve, 120430 (3);Coloboma, ocular, 120200 (3);Ectopia pupillae, 129750 (3);Foveal hyperplasia, 136520 (3);Gillespie synd;Keratitis, 148190 (3);Morning glory disc anomaly, 120430 (3);Optic nerve hypoplasia, 165550 (3);Peters anomaly, 604229 (3)
CG6726-PA	104620	NP_000657	2e-106	ACY1;ACY1D	ACYLASE;N-ACYL-L-AMINO ACID AMIDOHYDROLASE	Aminoacylase 1 deficiency, 609924 (3)
CG6726-PB	104620	NP_000657	2e-106	ACY1;ACY1D	ACYLASE;N-ACYL-L-AMINO ACID AMIDOHYDROLASE	Aminoacylase 1 deficiency, 609924 (3)
CG11348-PA	118502	NP_000733	2e-106	CHRNA2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CG4376-PA	182870	NP_001020029	2e-106	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG4376-PB	182870	NP_001020029	2e-106	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG1086-PB	138190	NP_001033	2e-106	GLUT4;SLC2A4	4; SLC2A4;GLUCOSE TRANSPORTER 4; GLUT4;GLUCOSE TRANSPORTER, INSULIN-RESPONSIVE	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG1086-PC	138190	NP_001033	2e-106	GLUT4;SLC2A4	4; SLC2A4;GLUCOSE TRANSPORTER 4; GLUT4;GLUCOSE TRANSPORTER, INSULIN-RESPONSIVE	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
CG11186-PA	607108	NP_001121084	2e-106	AN2;MGDA;PAX6		Aniridia, 106210 (3);Cataract with late-onset corneal dystrophy, 604219 (3);Coloboma of optic nerve, 120430 (3);Coloboma, ocular, 120200 (3);Ectopia pupillae, 129750 (3);Foveal hyperplasia, 136520 (3);Gillespie synd;Keratitis, 148190 (3);Morning glory disc anomaly, 120430 (3);Optic nerve hypoplasia, 165550 (3);Peters anomaly, 604229 (3)
CG10763-PA	139130	NP_002066	2e-106	GNB3		{Hypertension, essential, susceptibility to}, 145500 (3)
CG11533-PB	611695	NP_775771	2e-106	SCA11;TTBK2		Spinocerebellar ataxia-11, 604432 (3)
CG1086-PB	138160	NP_000331	3e-106	GLUT2;SLC2A2	2; SLC2A2;GLUCOSE TRANSPORTER 2; GLUT2;GLUCOSE TRANSPORTER, LIVER/ISLET	Fanconi-Bickel syndrome, 227810 (3);{Diabetes mellitus, noninsulin-dependent} (3)
CG1086-PC	138160	NP_000331	3e-106	GLUT2;SLC2A2	2; SLC2A2;GLUCOSE TRANSPORTER 2; GLUT2;GLUCOSE TRANSPORTER, LIVER/ISLET	Fanconi-Bickel syndrome, 227810 (3);{Diabetes mellitus, noninsulin-dependent} (3)
CG10443-PA	151460	NP_563578	3e-106	CD45;LCA;PTPRC	B220;CD45;CD45R;LEUKOCYTE-COMMON ANTIGEN; LCA;Ly5, HOMOLOG OF;T200 GLYCOPROTEIN	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3);{Hepatitic C virus, susceptibility to}, 609532 (3)
CG11533-PC	611695	NP_775771	3e-106	SCA11;TTBK2		Spinocerebellar ataxia-11, 604432 (3)
CG8298-PA	300474	NP_000158	4e-106	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG32134-PA	176943	NP_001138389	4e-106	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG32134-PB	176943	NP_001138389	4e-106	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7075-PB	604159	NP_004202	4e-106	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG17922-PA	605080	NP_061971	4e-106	ACHM1;ACHM3;CNGB3		Achromatopsia-3, 262300 (3);Macular degeneration, juvenile, 248200 (3)
CG11533-PA	611695	NP_775771	4e-106	SCA11;TTBK2		Spinocerebellar ataxia-11, 604432 (3)
CG13927-PA	137167	NP_001135741	5e-106	GGCX		Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3);Vitamin K-dependent coagulation defect, 277450 (3)
CG15148-PC	603335	NP_001360	5e-106	CILD3;DNAH5;HL1;PCD	HL1	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
CG7678-PA	604592	NP_006044	5e-106	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG10701-PB	607379	NP_861966	6e-106	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG1291-PA	607905	NP_149078	7e-106	ALG2;CDGII	ALG2	Congenital disorder of glycosylation, type Ii, 607906 (3)
CG17907-PA	177400	NP_000046	8e-106	BCHE;CHE1	ACYLCHOLINE ACYLHYDROLASE;BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE,;PSEUDOCHOLINESTERASE E1; CHE1	Apnea, postanesthetic (3)
CG12008-PC	604638	NP_004915	8e-106	ACTN4;FSGS;FSGS1	ACTININ-4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
CG12008-PB	604638	NP_004915	9e-106	ACTN4;FSGS;FSGS1	ACTININ-4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
CG10701-PC	607379	NP_000259	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG8909-PB	606945	NP_000518	1e-105	FH;FHC;LDLCQ2;LDLR	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	Hypercholesterolemia, familial, 143890 (3)
CG17320-PA	184755	NP_001007099	1e-105	SCP2	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SCPx-DEFICIENT,;STEROL CARRIER PROTEIN X; SCPX	Leukoencephalopathy with dystonia and motor neuropathy (3)
CG1732-PB	163970	NP_001034	1e-105	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG15148-PC	603339	NP_003768	1e-105	CILD7;DNAH11;DNAHBL;DNAHC11	DNAHC11;DPL11;DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL	Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3)
CG12008-PA	604638	NP_004915	1e-105	ACTN4;FSGS;FSGS1	ACTININ-4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
CG10701-PA	607379	NP_861966	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PJ	607379	NP_861966	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PD	607379	NP_861967	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PE	607379	NP_861967	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PF	607379	NP_861967	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PG	607379	NP_861967	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PH	607379	NP_861967	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PI	607379	NP_861967	1e-105	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG14026-PC	601284	NP_000011	2e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG6383-PB	600276	NP_000426	2e-105	CADASIL;CASIL;NOTCH3		Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3)
CG10827-PA	171760	NP_000469	2e-105	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG17597-PA	184755	NP_001007099	2e-105	SCP2	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SCPx-DEFICIENT,;STEROL CARRIER PROTEIN X; SCPX	Leukoencephalopathy with dystonia and motor neuropathy (3)
CG14026-PC	601284	NP_001070869	2e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG10827-PA	171760	NP_001120973	2e-105	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG4007-PA	601296	NP_005583	2e-105	MUSK		Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
CG32134-PA	136350	NP_075599	2e-105	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG32134-PB	136350	NP_075599	2e-105	FGFR1;FLT2;KAL2;OGD	FMS-LIKE GENE; FLG;FMS-LIKE TYROSINE KINASE 2; FLT2	Antley-Bixler syndrome, 207410 (3);Hypogonadotropic hypogonadism, 146110 (3);Jackson-Weiss syndrome, 123150 (3);Kallmann syndrome 2, 147950 (3);Osteoglophonic dysplasia, 166250 (3);Pfeiffer syndrome, 101600 (3);Trigonocephaly, 190440 (3)
CG14026-PB	601284	NP_000011	3e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG4542-PA	608103	NP_001007028	3e-105	ALG8	ALG8;DOLICHYL-P-GLUCOSE:Glc-1-Man-9-GlcNAc-2-PP-DOLICHYL-ALPHA-3-GLUCOSYLTRANSFERASE	Congenital disorder of glycosylation, type Ih, 608104 (3)
CG14026-PB	601284	NP_001070869	3e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG14026-PA	601284	NP_000011	4e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG14026-PA	601284	NP_001070869	4e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG3753-PA	606622	NP_001120679	4e-105	SMARCAL1;HARP;SIOD	HepA-RELATED PROTEIN; HARP;SMARCA-LIKE PROTEIN 1;SUBFAMILY A-LIKE PROTEIN 1; SMARCAL1	Schimke immunoosseous dysplasia, 242900 (3)
CG7095-PA	604067	NP_003826	4e-105	PERRS;RGS9		Bradyopsia, 608415 (3)
CG15088-PA	604159	NP_004202	4e-105	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG3753-PA	606622	NP_054859	4e-105	SMARCAL1;HARP;SIOD	HepA-RELATED PROTEIN; HARP;SMARCA-LIKE PROTEIN 1;SUBFAMILY A-LIKE PROTEIN 1; SMARCAL1	Schimke immunoosseous dysplasia, 242900 (3)
CG30175-PA	608548	NP_114141	4e-105	ARMD1;FBLN6;FIBL6;HMCN1	FIBL6;FIBULIN 6; FBLN6	{Macular degeneration, age-related, 1}, 603075 (3)
CG14026-PD	601284	NP_000011	5e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG14026-PD	601284	NP_001070869	5e-105	ACVRL1;ACVRLK1;ALK1;HHT2	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1	Hereditary hemorrhagic telangiectasia-2, 600376 (3)
CG10622-PA	603921	NP_003841	5e-105	SUCLA2	A-BETA;ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT	Mitochondrial DNA depletion syndrome, enceophalomyopathic form, with methylmalonic aciduria, 612073 (3)
CG12139-PB	602600	NP_004622	5e-105	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG12139-PB	602600	NP_001018064	7e-105	APOER2;LRP8;MCI1	APOLIPOPROTEIN E RECEPTOR 2; APOER2	{Myocardial infarction, susceptibility to}, 608446 (3)
CG17927-PA	601478	NP_005370	7e-105	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG17927-PH	601478	NP_005370	7e-105	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG6844-PA	118507	NP_000739	8e-105	CHRNB2;EFNL3	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
CG6844-PB	118507	NP_000739	8e-105	CHRNB2;EFNL3	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
CG7100-PA	605516	NP_071407	8e-105	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG10399-PA	246450	NP_000182	9e-105	HMGCL	HL DEFICIENCY;HMG-CoA LYASE DEFICIENCY;HYDROXYMETHYLGLUTARIC ACIDURIA;LEUCINE METABOLISM, DEFECT IN	HMG-CoA lyase deficiency (3)
CG6718-PB	603604	NP_001004426	9e-105	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG6718-PC	603604	NP_001004426	9e-105	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG6718-PD	603604	NP_001004426	9e-105	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG1869-PA	600031	NP_003456	9e-105	CHIT	CHITINASE; CHIT;CHITOTRIOSIDASE;METHYLUMBELLIFERYL-TETRA-N-ACETYLCHITOTETRAOSIDE HYDROLASE	[Chitotriosidase deficiency] (3)
CG6718-PA	603604	NP_001004426	1e-104	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG5411-PC	603390	NP_001025022	1e-104	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG14895-PA	300142	NP_001121638	1e-104	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG14895-PA	300142	NP_001121639	1e-104	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG14895-PA	300142	NP_001121640	1e-104	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG14895-PA	300142	NP_001121644	1e-104	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG14895-PA	300142	NP_002569	1e-104	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG4926-PA	602337	NP_004551	1e-104	BDB;BDB1;NTRKR2;ROR2	NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 2; NTRKR2	Brachydactyly, type B1, 113000 (3);Robinow syndrome, autosomal recessive, 268310 (3)
CG14938-PA	314995	NP_009061	1e-104	MRX89;ZNF41		Mental retardation, X-linked-89 (3)
CG1718-PA	607800	NP_056472	1e-104	ABCA12;ICR2B;LI2		Ichthyosis, harlequin, 242500 (3);Ichthyosis, lamellar 2, 601277 (3)
CG7100-PC	605516	NP_071407	1e-104	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG32849-PA	138079	NP_277043	1e-104	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG14938-PA	314995	NP_700359	1e-104	MRX89;ZNF41		Mental retardation, X-linked-89 (3)
CG1718-PA	607800	NP_775099	1e-104	ABCA12;ICR2B;LI2		Ichthyosis, harlequin, 242500 (3);Ichthyosis, lamellar 2, 601277 (3)
CG8298-PA	300474	NP_976325	1e-104	GK	ATP:GLYCEROL PHOSPHOTRANSFERASE	Glycerol kinase deficiency, 307030 (3)
CG7140-PA	305900	NP_000393	2e-104	G6PD;G6PD1		Favism (3);G6PD deficiency (3);Hemolytic anemia due to G6PD deficiency (3)
CG5610-PA	118502	NP_000733	2e-104	CHRNA2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CG5411-PC	603390	NP_001025024	2e-104	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5411-PC	603390	NP_001025025	2e-104	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG7140-PA	305900	NP_001035810	2e-104	G6PD;G6PD1		Favism (3);G6PD deficiency (3);Hemolytic anemia due to G6PD deficiency (3)
CG9325-PA	102680	NP_001110	2e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PB	102680	NP_001110	2e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PE	102680	NP_001110	2e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PF	102680	NP_001110	2e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG5411-PC	603390	NP_003710	2e-104	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG3022-PA	607340	NP_005449	2e-104	GABBR2;GPR51	G PROTEIN-COUPLED RECEPTOR 51; GPR51;GABA-B RECEPTOR, R2 SUBUNIT; GABABR2	{Nicotine dependence, protection against}, 188890 (3);{Nicotine dependence, susceptibility to}, 188890 (3)
CG6992-PI	305915	NP_015564	2e-104	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG32849-PA	138079	NP_000153	3e-104	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG7997-PA	104170	NP_000253	3e-104	NAGA	ALPHA-GALACTOSIDASE B; GALB	Kanzaki disease, 609242 (3);Schindler disease, type I, 609241 (3);Schindler disease, type III, 609241 (3)
CG7997-PB	104170	NP_000253	3e-104	NAGA	ALPHA-GALACTOSIDASE B; GALB	Kanzaki disease, 609242 (3);Schindler disease, type I, 609241 (3);Schindler disease, type III, 609241 (3)
CG1516-PA	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PB	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PD	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PE	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PG	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PI	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PJ	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PK	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PL	232000	NP_000273	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PA	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PB	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PD	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PE	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PG	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PI	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PJ	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PK	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG1516-PL	232000	NP_001121164	3e-104	PCCA	pccA COMPLEMENTATION GROUP	Propionicacidemia, 606054 (3)
CG14895-PA	300142	NP_001121645	3e-104	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG17927-PD	601478	NP_005370	3e-104	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG17927-PI	601478	NP_005370	3e-104	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9325-PA	102680	NP_054909	3e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9176-PB	600053	NP_001073347	4e-104	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG9176-PB	600053	NP_001289	4e-104	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG17927-PE	601478	NP_005370	4e-104	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG17927-PG	601478	NP_005370	4e-104	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG9325-PB	102680	NP_054909	4e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PE	102680	NP_054909	4e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PF	102680	NP_054909	4e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9138-PA	190198	NP_060087	4e-104	NOTCH1;TAN1	TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG; TAN1	Aortic valve disease, 109730 (3);Leukemia, T-cell acute lymphoblastic (2)
CG4288-PA	607557	NP_647480	4e-104	DFNA25;SLC17A8;VGLUT3	8; SLC17A8;VESICULAR GLUTAMATE TRANSPORTER 3; VGLUT3	Deafness, autosomal dominant 25, 605583 (3)
CG4288-PB	607557	NP_647480	4e-104	DFNA25;SLC17A8;VGLUT3	8; SLC17A8;VESICULAR GLUTAMATE TRANSPORTER 3; VGLUT3	Deafness, autosomal dominant 25, 605583 (3)
CG14228-PA	607379	NP_861968	4e-104	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG14228-PA	607379	NP_861969	4e-104	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG9325-PD	102680	NP_001110	5e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9176-PC	600053	NP_001289	5e-104	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG7873-PA	189980	NP_005148	5e-104	ABL1	ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL;TRANSFORMATION GENE: ONCOGENE ABL	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
CG7873-PB	189980	NP_005148	5e-104	ABL1	ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL;TRANSFORMATION GENE: ONCOGENE ABL	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
CG9325-PD	102680	NP_054909	5e-104	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9176-PC	600053	NP_001073347	6e-104	ACHM2;CNG3;CNGA3	CONE PHOTORECEPTOR cGMP-GATED CHANNEL;CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3	Achromatopsia-2, 216900 (3)
CG7095-PA	604067	NP_001075424	6e-104	PERRS;RGS9		Bradyopsia, 608415 (3)
CG32849-PA	138079	NP_277042	6e-104	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG7094-PA	600864	NP_001884	7e-104			
CG9936-PC	608771	NP_056150	7e-104	KIAA1025;PROSIT240;THRAP2;TRAP240L	KIAA1025;PROTEIN SIMILAR TO TRAP240; PROSIT240;TRAP240-LIKE PROTEIN; TRAP240L	Transposition of the great arteries, dextro-looped 1, 608808 (3)
CG9936-PD	608771	NP_056150	7e-104	KIAA1025;PROSIT240;THRAP2;TRAP240L	KIAA1025;PROTEIN SIMILAR TO TRAP240; PROSIT240;TRAP240-LIKE PROTEIN; TRAP240L	Transposition of the great arteries, dextro-looped 1, 608808 (3)
CG10701-PJ	607379	NP_861967	7e-104	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG8250-PA	105590	NP_004295	8e-104	ALK		{Neuroblastoma, susceptibility to}, 256700 (3)
CG7873-PA	189980	NP_009297	8e-104	ABL1	ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL;TRANSFORMATION GENE: ONCOGENE ABL	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
CG7873-PB	189980	NP_009297	8e-104	ABL1	ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL;TRANSFORMATION GENE: ONCOGENE ABL	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
CG10804-PB	182138	NP_001036	9e-104	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG7094-PA	600864	NP_620693	9e-104			
CG33275-PA	609526	NP_001123199	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PB	609526	NP_001123199	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PA	609526	NP_001123200	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PB	609526	NP_001123200	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PA	609526	NP_001123201	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PB	609526	NP_001123201	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG3573-PA	300535	NP_001578	1e-103	LOCR;NPHL2;OCRL;OCRL1	OCRL1	Dent disease 2, 300555 (3);Lowe syndrome, 309000 (3)
CG11186-PA	607108	NP_001595	1e-103	AN2;MGDA;PAX6		Aniridia, 106210 (3);Cataract with late-onset corneal dystrophy, 604219 (3);Coloboma of optic nerve, 120430 (3);Coloboma, ocular, 120200 (3);Ectopia pupillae, 129750 (3);Foveal hyperplasia, 136520 (3);Gillespie synd;Keratitis, 148190 (3);Morning glory disc anomaly, 120430 (3);Optic nerve hypoplasia, 165550 (3);Peters anomaly, 604229 (3)
CG5656-PA	171800	NP_001623	1e-103		PLAP; PALP;REGAN ISOZYME	
CG33275-PA	609526	NP_056247	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PB	609526	NP_056247	1e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG10701-PC	607379	NP_861966	1e-103	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG4376-PC	182870	NP_000338	2e-103	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG17110-PA	104620	NP_000657	2e-103	ACY1;ACY1D	ACYLASE;N-ACYL-L-AMINO ACID AMIDOHYDROLASE	Aminoacylase 1 deficiency, 609924 (3)
CG4376-PC	182870	NP_001020029	2e-103	EL3;HS2;SPH2;SPTB	SPECTRIN, BETA-I	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2 (3)
CG14895-PB	300142	NP_001121644	2e-103	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG33275-PA	609526	NP_001123203	2e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PB	609526	NP_001123203	2e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG9901-PA	102540	NP_005150	2e-103	ACTC1;ASD5;CMD1R;CMH11	ACTC;ACTIN, ALPHA;SMOOTH MUSCLE ACTIN	Atrial septal defect 5, 612794 (3);Cardiomyopathy, dilated, 1R (3);Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
CG17927-PC	601478	NP_005370	2e-103	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG31729-PA	602397	NP_005594	2e-103	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG31729-PB	602397	NP_005594	2e-103	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG5776-PA	601023	NP_009057	2e-103	VCP;IBMPFD	CDC48, YEAST, HOMOLOG OF;p97	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, 167320 (3)
CG7100-PI	605516	NP_071407	2e-103	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG32134-PA	134934	NP_075254	2e-103	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG32134-PB	134934	NP_075254	2e-103	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG9554-PB	601653	NP_742056	2e-103	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG7234-PI	138244	NP_786944	2e-103	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG6844-PA	118504	NP_000735	3e-103	CHRNA4;ENFL1	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT	Epilepsy, nocturnal frontal lobe, 1, 600513 (3);{Nicotine addiction, susceptibility to}, 188890 (3)
CG6844-PB	118504	NP_000735	3e-103	CHRNA4;ENFL1	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT	Epilepsy, nocturnal frontal lobe, 1, 600513 (3);{Nicotine addiction, susceptibility to}, 188890 (3)
CG9901-PA	102630	NP_001092	3e-103	ACTB	BETA-ACTIN	Dystonia, juvenile-onset, 607371 (3)
CG14895-PB	300142	NP_001121638	3e-103	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG14895-PB	300142	NP_001121639	3e-103	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG14895-PB	300142	NP_001121640	3e-103	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG33275-PC	609526	NP_001123199	3e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PC	609526	NP_001123200	3e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG33275-PC	609526	NP_001123201	3e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG14895-PB	300142	NP_002569	3e-103	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG17927-PB	601478	NP_005370	3e-103	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG17927-PF	601478	NP_005370	3e-103	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG17927-PK	601478	NP_005370	3e-103	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG33275-PC	609526	NP_056247	3e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG7234-PI	138244	NP_068775	3e-103	GRIK2;GLUR6;MRT6	GLUTAMATE RECEPTOR 6; GLR6; GLUR6	Mental retardation, autosomal recessive, 6, 611092 (3)
CG11895-PA	605516	NP_071407	3e-103	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG7100-PJ	605516	NP_071407	3e-103	CDH23;USH1D	OTOCADHERIN	Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3)
CG9554-PA	601653	NP_742056	3e-103	BOR;EYA1	EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1	Anterior segment anomalies and cataract (3);Branchiootic syndrome (3);Branchiootorenal syndrome with cataract, 113650 (3);Branchiootorenal syndrome, 113650 (3);Otofaciocervical syndrome, 166780 (3)
CG14895-PB	300142	NP_001121645	4e-103	MRX30;MRX47;PAK3	OLIGOPHRENIN 3; OPHN3	Mental retardation, X-linked 30, 300558 (3)
CG33275-PC	609526	NP_001123203	4e-103	PLEKHG4	PLEKHG4;PURATROPHIN 1;PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1	Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)
CG9901-PA	102560	NP_001605	4e-103	ACTG1;DFNA20;DFNA26	ACTIN, CYTOPLASMIC, 2;ACTIN, GAMMA; ACTG;CYTOSKELETAL GAMMA-ACTIN	Deafness, autosomal dominant 20/26, 604717 (3)
CG17927-PM	601478	NP_005370	4e-103	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG2304-PA	603046	NP_009149	4e-103	HRCA1;RCA1;RNF139;TRC8	TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8; TRC8	Renal cell carcinoma, 144700 (3)
CG2304-PB	603046	NP_009149	4e-103	HRCA1;RCA1;RNF139;TRC8	TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8; TRC8	Renal cell carcinoma, 144700 (3)
CG10701-PC	607379	NP_057502	4e-103	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG7806-PA	607040	NP_660187	4e-103	ABCC11;EWWD;MRP8;WW	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8	[Earwax, wet/dry], 117800 (3)
CG10701-PC	607379	NP_861546	4e-103	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG10701-PC	607379	NP_861970	4e-103	NF2	MERLIN;SCHWANNOMIN; SCH	Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, 162091 (3)
CG8169-PA	600259	NP_000526	5e-103	HNPCC4;PMS2;PMSL2	MISMATCH REPAIR GENE PMSL2; PMSL2	Colorectal cancer, hereditary nonpolyposis, type 4 (3);Mismatch repair cancer syndrome, 276300 (3)
CG17927-PL	601478	NP_005370	6e-103	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG3530-PB	603557	NP_057240	6e-103	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG30359-PA	104614	NP_000332	7e-103	ATR1;D2H;NBAT;SLC3A1	AMINO ACID TRANSPORTER 1; ATR1;D2H;RBAT;TRANSPORTER), MEMBER 1; SLC3A1	Cystinuria, 220100 (3);Homozygous 2p16 deletion syndrome, 606407 (3)
CG10592-PA	171760	NP_000469	7e-103	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG9901-PA	102610	NP_001091	7e-103	ACTA1;ASMA;CFTD1;NEM1;NEM3	ASMA	Myopathy, actin, congenital, with cores (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disporportion 1, 255310 (3);Myopathy, nemaline, 3, 161800 (3)
CG10592-PA	171760	NP_001120973	7e-103	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG7356-PB	603805	NP_963925	7e-103	TGM6;TGX	TRANSGLUTAMINASE X; TGX	Peeling skin syndrome, acral type, 609796 (3)
CG3573-PA	300535	NP_000267	1e-102	LOCR;NPHL2;OCRL;OCRL1	OCRL1	Dent disease 2, 300555 (3);Lowe syndrome, 309000 (3)
CG5150-PA	171760	NP_000469	1e-102	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG8681-PA	305915	NP_000819	1e-102	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG12008-PA	102574	NP_001095	1e-102	ACTN3		[Alpha-actinin-3 deficiency] (3);[Sprinting performance] (3)
CG12008-PB	102574	NP_001095	1e-102	ACTN3		[Alpha-actinin-3 deficiency] (3);[Sprinting performance] (3)
CG12008-PC	102574	NP_001095	1e-102	ACTN3		[Alpha-actinin-3 deficiency] (3);[Sprinting performance] (3)
CG5150-PA	171760	NP_001120973	1e-102	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG2577-PA	600864	NP_001884	1e-102			
CG8681-PA	305915	NP_015564	1e-102	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG3530-PA	603557	NP_057240	1e-102	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG8224-PB	601300	NP_064733	1e-102	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG2577-PA	600864	NP_620693	1e-102			
CG3530-PB	603557	NP_958435	1e-102	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG3530-PB	603557	NP_958438	1e-102	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG7356-PA	603805	NP_963925	1e-102	TGM6;TGX	TRANSGLUTAMINASE X; TGX	Peeling skin syndrome, acral type, 609796 (3)
CG33135-PA	607542	NP_000209	2e-102	ATFB3;KCNA9;KCNQ1;KVLQT1;LQT1;SQT2	9; KCNA9;KCNA8;KVLQT1;POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER	Atrial fibrillation, familial, 3, 607554 (3);Jervell and Lange-Nielsen syndrome, 220400 (3);Long QT syndrome-1, 192500 (3);Short QT syndrome-2, 609621 (3);Torsades de pointes, drug-associated (3)
CG2411-PA	601309	NP_001077073	2e-102	BCNS;HPE7;NBCCS;PTCH1	PTC;PTCH	Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Holoprosencephaly-7, 610828 (3)
CG2411-PA	601309	NP_001077074	2e-102	BCNS;HPE7;NBCCS;PTCH1	PTC;PTCH	Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Holoprosencephaly-7, 610828 (3)
CG2411-PA	601309	NP_001077075	2e-102	BCNS;HPE7;NBCCS;PTCH1	PTC;PTCH	Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Holoprosencephaly-7, 610828 (3)
CG2411-PA	601309	NP_001077076	2e-102	BCNS;HPE7;NBCCS;PTCH1	PTC;PTCH	Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Holoprosencephaly-7, 610828 (3)
CG14815-PB	600414	NP_001124496	2e-102	PEX5;PTS1R;PXR1	PEROXIN 5;PEROXISOME RECEPTOR 1; PXR1;PTS1 RECEPTOR; PTS1R	Adrenoleukodystrophy, neonatal, 202370 (3);Zellweger syndrome, 214100 (3)
CG9901-PA	102620	NP_001135417	2e-102	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG9901-PA	102620	NP_001604	2e-102	AAT6;ACTA2;ACTSA	ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;ACTIN, VASCULAR SMOOTH MUSCLE	Aortic aneurysm, familial thoracic 6, 611788 (3)
CG3068-PA	603072	NP_003591	2e-102	AIK;ARK1;AURKA;AURORA2;BTAK;STK15;STK6	AURORA-RELATED KINASE 1; ARK1;AURORA/IPL1-LIKE KINASE; AIK;AURORA2;BTAK;SERINE/THREONINE PROTEIN KINASE 15; STK15;STK6, MOUSE, HOMOLOG OF; STK6	{Colon cancer, susceptibility to}, 114500 (3)
CG10523-PB	602544	NP_004553	2e-102	LPRS2;PARK2;PDJ;PRKN	PRKN	Adenocarcinoma of lung, somatic, 211980 (3);Adenocarcinoma, ovarian, somatic, 604370 (3);Parkinson disease, juvenile, type 2, 600116 (3);{Leprosy, susceptibility to}, 607572 (3)
CG10523-PC	602544	NP_004553	2e-102	LPRS2;PARK2;PDJ;PRKN	PRKN	Adenocarcinoma of lung, somatic, 211980 (3);Adenocarcinoma, ovarian, somatic, 604370 (3);Parkinson disease, juvenile, type 2, 600116 (3);{Leprosy, susceptibility to}, 607572 (3)
CG9613-PA	609825	NP_056512	2e-102	COQ2	PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL	Coenzyme Q10 deficiency, 607426 (3)
CG3068-PA	603072	NP_940835	2e-102	AIK;ARK1;AURKA;AURORA2;BTAK;STK15;STK6	AURORA-RELATED KINASE 1; ARK1;AURORA/IPL1-LIKE KINASE; AIK;AURORA2;BTAK;SERINE/THREONINE PROTEIN KINASE 15; STK15;STK6, MOUSE, HOMOLOG OF; STK6	{Colon cancer, susceptibility to}, 114500 (3)
CG3068-PA	603072	NP_940836	2e-102	AIK;ARK1;AURKA;AURORA2;BTAK;STK15;STK6	AURORA-RELATED KINASE 1; ARK1;AURORA/IPL1-LIKE KINASE; AIK;AURORA2;BTAK;SERINE/THREONINE PROTEIN KINASE 15; STK15;STK6, MOUSE, HOMOLOG OF; STK6	{Colon cancer, susceptibility to}, 114500 (3)
CG3068-PA	603072	NP_940837	2e-102	AIK;ARK1;AURKA;AURORA2;BTAK;STK15;STK6	AURORA-RELATED KINASE 1; ARK1;AURORA/IPL1-LIKE KINASE; AIK;AURORA2;BTAK;SERINE/THREONINE PROTEIN KINASE 15; STK15;STK6, MOUSE, HOMOLOG OF; STK6	{Colon cancer, susceptibility to}, 114500 (3)
CG3068-PA	603072	NP_940838	2e-102	AIK;ARK1;AURKA;AURORA2;BTAK;STK15;STK6	AURORA-RELATED KINASE 1; ARK1;AURORA/IPL1-LIKE KINASE; AIK;AURORA2;BTAK;SERINE/THREONINE PROTEIN KINASE 15; STK15;STK6, MOUSE, HOMOLOG OF; STK6	{Colon cancer, susceptibility to}, 114500 (3)
CG3068-PA	603072	NP_940839	2e-102	AIK;ARK1;AURKA;AURORA2;BTAK;STK15;STK6	AURORA-RELATED KINASE 1; ARK1;AURORA/IPL1-LIKE KINASE; AIK;AURORA2;BTAK;SERINE/THREONINE PROTEIN KINASE 15; STK15;STK6, MOUSE, HOMOLOG OF; STK6	{Colon cancer, susceptibility to}, 114500 (3)
CG33135-PB	607542	NP_000209	3e-102	ATFB3;KCNA9;KCNQ1;KVLQT1;LQT1;SQT2	9; KCNA9;KCNA8;KVLQT1;POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER	Atrial fibrillation, familial, 3, 607554 (3);Jervell and Lange-Nielsen syndrome, 220400 (3);Long QT syndrome-1, 192500 (3);Short QT syndrome-2, 609621 (3);Torsades de pointes, drug-associated (3)
CG3752-PA	602733	NP_000687	3e-102		ALDEHYDE DEHYDROGENASE 9; ALDH9;E3	
CG14815-PA	600414	NP_001124496	3e-102	PEX5;PTS1R;PXR1	PEROXIN 5;PEROXISOME RECEPTOR 1; PXR1;PTS1 RECEPTOR; PTS1R	Adrenoleukodystrophy, neonatal, 202370 (3);Zellweger syndrome, 214100 (3)
CG1065-PA	611224	NP_003840	3e-102	SUCLG1;SUCLA1	G-ALPHA;SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1;SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT	Lactic acidosis, fatal infantile, 245400 (3)
CG4078-PA	605882	NP_114432	3e-102	BRIP1;BACH1;FANCJ	BRCA1-ASSOCIATED C-TERMINAL HELICASE 1; BACH1;DELETIONS OF GUANINE-RICH DNA, C. ELEGANS, HOMOLOG OF;DOG1, HOMOLOG OF;FANCJ GENE; FANCJ	Breast cancer, early-onset, 114480 (3);Fanconi anemia, complementation group J, 609054 (3)
CG5076-PA	152427	NP_742053	3e-102	HERG;KCNH2;LQT2;SQT1	ERG1;ETHER-A-GO-GO-RELATED GENE, HUMAN;HUMAN ETHER-A-GO-GO-RELATED GENE; HERG	Long QT syndrome-2 (3);Short QT syndrome-1, 609620 (3);{Long QT syndrome, acquired, susceptibility to} (3)
CG3530-PA	603557	NP_958435	3e-102	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG3530-PA	603557	NP_958438	3e-102	CMT4B1;MTMR2	KIAA1073	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
CG5610-PA	118504	NP_000735	5e-102	CHRNA4;ENFL1	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT	Epilepsy, nocturnal frontal lobe, 1, 600513 (3);{Nicotine addiction, susceptibility to}, 188890 (3)
CG5411-PD	603390	NP_001025023	5e-102	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG33298-PA	602397	NP_005594	5e-102	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG5411-PA	603390	NP_001025023	6e-102	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG5411-PB	603390	NP_001025023	6e-102	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG17927-PJ	601478	NP_005370	6e-102	DFNA48;MYO1A		Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)
CG33298-PB	602397	NP_005594	6e-102	ATP8B1;BRIC;FIC1;PFIC1	FIC GENE 1; FIC1	Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CG5620-PA	300646	NP_001008223	7e-102	DHHC9;ZDHHC9	DHHC DOMAIN-CONTAINING PROTEIN 9; DHHC9	Mental retardation, X-linked, ZDHHC9-related (3)
CG5620-PB	300646	NP_001008223	7e-102	DHHC9;ZDHHC9	DHHC DOMAIN-CONTAINING PROTEIN 9; DHHC9	Mental retardation, X-linked, ZDHHC9-related (3)
CG5411-PC	603390	NP_001025023	7e-102	PDE8B;PPNAD3		Pigmented nodular adrenocortical disease, primary, 3 (3)
CG7349-PA	185470	NP_002991	7e-102	PGL4;SDH1;SDHB;SDHIP	SUCCINATE DEHYDROGENASE 1, IRON SULFUR SUBUNIT; SDH1	Cowden-like syndrome, 612359 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paraganglioma, familial chromaffin, 4, 115310 (3);Pheochromocytoma, 171300 (3)
CG5620-PA	300646	NP_057116	7e-102	DHHC9;ZDHHC9	DHHC DOMAIN-CONTAINING PROTEIN 9; DHHC9	Mental retardation, X-linked, ZDHHC9-related (3)
CG5620-PB	300646	NP_057116	7e-102	DHHC9;ZDHHC9	DHHC DOMAIN-CONTAINING PROTEIN 9; DHHC9	Mental retardation, X-linked, ZDHHC9-related (3)
CG9319-PA	604489	NP_055139	8e-102	AMACR;CBAS4		Alpha-methylacyl-CoA racemase deficiency (3);Bile acid synthesis defect, congenital, 4, 214950 (3)
CG18012-PA	605907	NP_061982	8e-102	ALG1;HMAT1;HMT1	ASPARAGINE-LINKED GLYCOSYLATION 1 HOMOLOG;BETA-1,4 MANNOSYLTRANSFERASE;HMAT1;HMT1	Congenital disorder of glycosylation, type Ik, 608540 (3)
CG8094-PA	138079	NP_277043	8e-102	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG6992-PI	305915	NP_000819	9e-102	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG11899-PA	610936	NP_066977	9e-102	EPIP;PSAT;PSAT1	ENDOMETRIAL PROGESTERONE-INDUCED PROTEIN; EPIP;PSAT	Phosphoserine aminotransferase deficiency, 610992 (3)
CG4481-PA	305915	NP_000819	1e-101	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG4481-PA	305915	NP_015564	1e-101	GRIA3;GLUR3;MRX94	GLURC;GLUTAMATE RECEPTOR 3; GLUR3	Mental retardation, X-linked 94, 300699 (3)
CG3874-PA	610804	NP_055954	1e-101	KIAA0260;SLC35D1;UGTREL7	DUAL TRANSPORTER), MEMBER D1; SLC35D1;KIAA0260;UDP-GALACTOSE TRANSPORTER-RELATED 7; UGTREL7	Schneckenbecken dysplasia, 269250 (3)
CG1516-PA	609010	NP_064551	1e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1516-PB	609010	NP_064551	1e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1516-PD	609010	NP_064551	1e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1516-PE	609010	NP_064551	1e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1516-PG	609010	NP_064551	1e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG8094-PA	138079	NP_000153	2e-101	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG17907-PA	100740	NP_000656	2e-101	ACHE;YT	ACETYLCHOLINE ACETYLHYDROLASE	[Blood group, Yt system], 112100 (3)
CG6070-PA	603593	NP_001119577	2e-101	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG6070-PA	603593	NP_001119578	2e-101	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG6718-PA	603604	NP_003551	2e-101	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG6718-PB	603604	NP_003551	2e-101	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG6718-PC	603604	NP_003551	2e-101	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG6718-PD	603604	NP_003551	2e-101	INAD1;IPLA2;PLA2G6	IPLA2-VIA;PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2	Infantile neuroaxonal dystrophy 1, 256600 (3);Karak syndrome, 608395 (3);Neurodegeneration with brain iron accumulation, 610217 (3)
CG6070-PA	603593	NP_003973	2e-101	LPI;SLC7A7	MEMBER 7; SLC7A7;y(+)L-TYPE AMINO ACID TRANSPORTER 1;y(+)LAT1	Lysinuric protein intolerance, 222700 (3)
CG5695-PA	602129	NP_004136	2e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5695-PE	602129	NP_004136	2e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5695-PF	602129	NP_004136	2e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG2304-PD	603046	NP_009149	2e-101	HRCA1;RCA1;RNF139;TRC8	TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8; TRC8	Renal cell carcinoma, 144700 (3)
CG17907-PA	100740	NP_056646	2e-101	ACHE;YT	ACETYLCHOLINE ACETYLHYDROLASE	[Blood group, Yt system], 112100 (3)
CG1516-PI	609010	NP_064551	2e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1516-PJ	609010	NP_064551	2e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1516-PK	609010	NP_064551	2e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG1516-PL	609010	NP_064551	2e-101	MCCC1;MCCA	3-@METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;3-@METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT	3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
CG8094-PA	138079	NP_277042	2e-101	GCK;HHF3	GK; GLK;HEXOKINASE 4; HK4	Diabetes mellitus, gestational, 125851 (3);Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3);MODY, type II, 125851 (3)
CG10804-PA	182138	NP_001036	3e-101	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG5695-PA	602129	NP_001123537	3e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5695-PB	602129	NP_001123537	3e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5695-PC	602129	NP_001123537	3e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5695-PE	602129	NP_001123537	3e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5695-PF	602129	NP_001123537	3e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5870-PA	182860	NP_003117	3e-101	EL2;HPP;HS3;SPH3;SPTA1		Elliptocytosis-2, 130600 (3);Pyropoikilocytosis, 266140 (3);Spherocytosis, type 3, 270970 (3)
CG5695-PB	602129	NP_004136	3e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG7223-PA	176943	NP_001138386	4e-101	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PB	176943	NP_001138386	4e-101	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG7223-PC	176943	NP_001138386	4e-101	BEK;CFD1;FGFR2;JWS	FGF RECEPTOR;PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14	Antley-Bixler syndrome, 207410 (;Apert syndrome, 101200 (3);Beare-Stevenson cutis gyrata syndrome, 123790 (3);Craniofacial-skeletal-dermatologic dysplasia (3);Craniosynostosis, nonspecific (3);Crouzon syndrome, 123500 (3);Gastric cancer, somatic, 137215 (3);Jackson-Weiss syndrome, 123150 (3);Pfeiffer syndrome, 101600 (3);Saethre-Chotzen syndrome, 101400 (3)
CG5695-PC	602129	NP_004136	4e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG8743-PA	605248	NP_065394	4e-101	MCOLN1;ML4	MEMBER 1; TRPML1;ML4 GENE;MUCOLIPIDIN;TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY,	Mucolipidosis IV, 252650 (3)
CG3264-PA	171760	NP_000469	5e-101	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG3264-PA	171760	NP_001120973	5e-101	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG2248-PA	602049	NP_002863	5e-101	RAC2	RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC2	Neutrophil immunodeficiency syndrome, 608203 (3)
CG5610-PA	118503	NP_000734	6e-101	CHRNA3;LNCR2;PAOD2	ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-3 SUBUNIT	{Lung cancer susceptibility 2}, 612052 (3)
CG11140-PH	609523	NP_001026976	6e-101	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG17697-PA	604579	NP_036325	6e-101	EVR1;FZD4		Exudative vitreoretinopathy, 133780 (3);Retinopathy of prematurity, 133780 (3)
CG5695-PD	602129	NP_001123537	8e-101	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG15609-PA	609922	NP_056067	8e-101	EHBP1;HPC12;KIAA0903	KIAA0903	{Prostate cancer, hereditary, 12}, 611868 (3)
CG15609-PB	609922	NP_056067	8e-101	EHBP1;HPC12;KIAA0903	KIAA0903	{Prostate cancer, hereditary, 12}, 611868 (3)
CG15609-PC	609922	NP_056067	8e-101	EHBP1;HPC12;KIAA0903	KIAA0903	{Prostate cancer, hereditary, 12}, 611868 (3)
CG11140-PH	609523	NP_000373	1e-100	ALDH10;ALDH3A2;FALDH;SLS	ALDEHYDE DEHYDROGENASE 10; ALDH10;FATTY ALDEHYDE DEHYDROGENASE; FALDH	Sjogren-Larsson syndrome, 270200 (3)
CG8475-PB	311870	NP_002628	1e-100	PHKA1		Muscle glycogenosis, 300559 (3)
CG5695-PD	602129	NP_004136	1e-100	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG7075-PA	300036	NP_005620	1e-100	CRTR;SLC6A8	CREATINE TRANSPORTER; CT1; CRTR; CRT;MEMBER 8; SLC6A8	Creatine deficiency syndrome, X-linked, 300352 (3)
CG7223-PA	134934	NP_075254	1e-100	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG7223-PB	134934	NP_075254	1e-100	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG7223-PC	134934	NP_075254	1e-100	ACH;FGFR3		Achondroplasia, 100800 (3);Bladder cancer, 109800 (3);CATSHL syndrome, 610474 (3);Cervical cancer, somatic, 603956 (3);Colorectal cancer, somatic, 109800 (3);Crouzon syndrome with acanthosis nigricans, 612247 (3);Hypochondroplasia, 146000 (3);LADD syndrome, 149730 (3);Muenke syndrome, 602849 (3);Nevus, keratinocytic, nonepidermolytic, 162900 (3);Thanatophoric dysplasia, types I and II, 187600 (3)
CG8475-PB	306000	NP_000283	2e-100	GSD9A;PHK;PHKA2;PYKL;XLG	GLYCOGEN STORAGE DISEASE IXa1;GLYCOGEN STORAGE DISEASE VIII, FORMERLY;GSD IX;GSD IXa; GSD9A;GSD VIII, FORMERLY; GSD8, FORMERLY;HEPATIC PHOSPHORYLASE KINASE DEFICIENCY; PHK;LIVER GLYCOGENOSIS, X-LINKED, TYPE I;PHOSPHORYLASE KINASE DEFICIENCY OF LIVER; PYK; PYKL;X-LINKED LIVER GLYCOGENOSIS; XLG	Glycogenosis, X-linked hepatic, type I (3);Glycogenosis, X-linked hepatic, type II (3)
CG8475-PB	311870	NP_001116142	2e-100	PHKA1		Muscle glycogenosis, 300559 (3)
CG33955-PB	612424	NP_001136272	2e-100	EYS;RP25	SPACEMAKER; SPAM	Retinitis pigmentosa-25, 602772 (3)
CG10261-PA	176960	NP_002728	2e-100	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG10261-PC	176960	NP_002728	2e-100	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG8709-PA	605519	NP_055461	2e-100	LPIN2		Majeed syndrome, 609628 (3)
CG13778-PA	131100	NP_570711	2e-100	MEN1	ENDOCRINE ADENOMATOSIS, MULTIPLE;MEA I;MEN I;WERMER SYNDROME	Adrenal adenoma, somatic (3);Angiofibroma, somatic (3);Carcinoid tumor of lung (3);Hyperparathyroidism, AD, 145000 (3);Lipoma, somatic (3);Multiple endocrine neoplasia I (3);Parathyroid adenoma, somatic (3);Prolactinoma, hyperparathyroidism, carcinoid syndrome (3)
CG13778-PC	131100	NP_570711	2e-100	MEN1	ENDOCRINE ADENOMATOSIS, MULTIPLE;MEA I;MEN I;WERMER SYNDROME	Adrenal adenoma, somatic (3);Angiofibroma, somatic (3);Carcinoid tumor of lung (3);Hyperparathyroidism, AD, 145000 (3);Lipoma, somatic (3);Multiple endocrine neoplasia I (3);Parathyroid adenoma, somatic (3);Prolactinoma, hyperparathyroidism, carcinoid syndrome (3)
CG33135-PB	602235	NP_742106	2e-100	EBN1;KCNQ2	POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 2	Epilepsy, benign, neonatal, type 1, 121200 (3);Myokymia with neonatal epilepsy, 606437 (3)
CG10261-PD	176960	NP_002728	3e-100	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG2146-PB	602129	NP_001123537	4e-100	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG10261-PE	176960	NP_002728	4e-100	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG1709-PH	604592	NP_006010	4e-100	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG10804-PB	126455	NP_001035	5e-100	SLC6A3;DAT1	DOPAMINE TRANSPORTER; DAT; DAT1;MEMBER 3; SLC6A3	{Attention-deficit hyperactivity disorder, susceptibility to}, 143465 (2);{Major affective disorder}, 125480 (3);{Nicotine dependence, protection against}, 188890 (3)
CG8850-PB	182138	NP_001036	5e-100	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG31009-PA	605514	NP_001136243	5e-100	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG2146-PB	602129	NP_004136	5e-100	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG9325-PB	102680	NP_054908	5e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PE	102680	NP_054908	5e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PF	102680	NP_054908	5e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG31009-PA	605514	NP_001136244	6e-100	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG3254-PA	601756	NP_004473	6e-100	GALNT3;HFTC;HHS	3; GALNT3;GalNAc TRANSFERASE 3; GalNAcT3;POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3	Hyperostosis-hyperphosphatemia syndrome, 610233 (3);Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
CG31005-PA	607429	NP_055132	6e-100	COQ1;PDSS1;TPT	COQ1, S. CEREVISIAE, HOMOLOG OF; COQ1;DECAPRENYL DIPHOSPHATE SYNTHASE; DPS;POLYPRENYL PYROPHOSPHATE SYNTHETASE;SOLANESYL DIPHOSPHATE SYNTHASE, MOUSE, HOMOLOG OF; SPS;TRANS-PRENYLTRANSFERASE; TPT	Coenzyme Q10 deficiency, 607426 (3)
CG7177-PA	605232	NP_061852	6e-100	HSAN2;HSN2;KDP;PHA2C;PRKWNK1;WNK1	KDP;KIAA0344;PRKWNK1;PROSTATE-DERIVED STERILE 20-LIKE KINASE; PSK	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3);Pseudohypoaldosteronism, type IIC, 145260 (3)
CG8412-PA	607144	NP_077010	6e-100	ALG12	ASPARAGINE-LINKED GLYCOSYLATION 12, HOMOLOG OF;DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE	Congenital disorder of glycosylation, type Ig, 607143 (3)
CG9325-PB	102680	NP_789771	6e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PE	102680	NP_789771	6e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG9325-PF	102680	NP_789771	6e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG10804-PB	163970	NP_001034	7e-100	NAT1;NET1;SLC6A2	MEMBER 2; SLC6A2;NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1	Orthostatic intolerance, 604715 (3)
CG2146-PC	602129	NP_001123537	7e-100	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG10261-PB	176960	NP_002728	7e-100	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG9325-PA	102680	NP_054908	7e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG13778-PB	131100	NP_570711	7e-100	MEN1	ENDOCRINE ADENOMATOSIS, MULTIPLE;MEA I;MEN I;WERMER SYNDROME	Adrenal adenoma, somatic (3);Angiofibroma, somatic (3);Carcinoid tumor of lung (3);Hyperparathyroidism, AD, 145000 (3);Lipoma, somatic (3);Multiple endocrine neoplasia I (3);Parathyroid adenoma, somatic (3);Prolactinoma, hyperparathyroidism, carcinoid syndrome (3)
CG6747-PA	600681	NP_000882	8e-100	HHIRK1;IRK1;KCNJ2;KIR2.1;LQT7;SQT3	HHIRK1;IRK1;KIR2.1	Long QT syndrome-7, 170390 (3);Short QT syndrome-3, 609622 (3)
CG2146-PA	602129	NP_001123537	8e-100	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG31009-PA	605514	NP_001136240	8e-100	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG31009-PA	605514	NP_001136242	8e-100	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG31009-PA	605514	NP_001136245	8e-100	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG2146-PA	602129	NP_004136	8e-100	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG3578-PA	601621	NP_005987	8e-100	TBX3		Ulnar-mammary syndrome, 181450 (3)
CG9325-PD	102680	NP_054908	8e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG10261-PF	176960	NP_002728	9e-100	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG9325-PA	102680	NP_789771	9e-100	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG7311-PA	138430	NP_000399	1e-99	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG3290-PA	171760	NP_000469	1e-99	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG7311-PA	138430	NP_001076581	1e-99	GPD2	GDH2;GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;GPD, MITOCHONDRIAL; GPDM	{Diabetes, type 2, susceptibility to}, 125853 (3)
CG3290-PA	171760	NP_001120973	1e-99	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG31009-PA	605514	NP_001136235	1e-99	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG31009-PA	605514	NP_001136236	1e-99	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG31009-PA	605514	NP_001136238	1e-99	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG2146-PC	602129	NP_004136	1e-99	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG15088-PB	604159	NP_004202	1e-99	GLYT2;SLC6A5	5; SLC6A5;GLYCINE TRANSPORTER, TYPE 2; GLYT2	Hyperekplexia, 149400 (3)
CG1891-PB	601300	NP_004293	1e-99	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG31009-PA	605514	NP_149045	1e-99	PCDH15;DFNB23;USH1F		Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3)
CG9325-PD	102680	NP_789771	1e-99	ADD1	ADDUCIN, ALPHA	{Hypertension, essential, salt-sensitive}, 145500 (3)
CG18519-PA	607633	NP_000370	2e-99	XDH	XANTHINE OXIDASE; XO;XANTHINE OXIDOREDUCTASE; XOR	Xanthinuria, type I, 278300 (3)
CG6733-PA	104620	NP_000657	2e-99	ACY1;ACY1D	ACYLASE;N-ACYL-L-AMINO ACID AMIDOHYDROLASE	Aminoacylase 1 deficiency, 609924 (3)
CG8850-PA	182138	NP_001036	2e-99	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG14026-PC	601300	NP_004293	2e-99	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG1891-PA	601300	NP_004293	2e-99	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG6297-PA	300075	NP_004577	2e-99	MRX19;RPS6KA3;RSK2	MAPKAP KINASE 1B;MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1B; MAPKAPK1B;RIBOSOMAL S6 KINASE 2; RSK2	Coffin-Lowry syndrome, 303600 (3);Mental retardation, X-linked nonspecific, type 19 (3)
CG6297-PB	300075	NP_004577	2e-99	MRX19;RPS6KA3;RSK2	MAPKAP KINASE 1B;MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1B; MAPKAPK1B;RIBOSOMAL S6 KINASE 2; RSK2	Coffin-Lowry syndrome, 303600 (3);Mental retardation, X-linked nonspecific, type 19 (3)
CG8153-PA	278720	NP_004619	2e-99	XPC;XPCC	XERODERMA PIGMENTOSUM III; XP3;XP, GROUP C;XPC GENE;XPCC	Xeroderma pigmentosum, group C (3)
CG8153-PC	278720	NP_004619	2e-99	XPC;XPCC	XERODERMA PIGMENTOSUM III; XP3;XP, GROUP C;XPC GENE;XPCC	Xeroderma pigmentosum, group C (3)
CG1809-PA	171760	NP_000469	3e-99	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG4562-PA	602421	NP_000483	3e-99	ABCC7;CF;CFTR;MRP7	ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 7; ABCC7	Congenital bilateral absence of vas deferens, 277180 (3);Cystic fibrosis, 219700 (3);Sweat chloride elevation without CF (3);{Hypertrypsinemia, neonatal} (3);{Pancreatitis, idiopathic} (3)
CG1698-PA	182138	NP_001036	3e-99	HTT;OCD1;SLC6A4	5-@HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;HTT;MEMBER 4; SLC6A4;SEROTONIN TRANSPORTER; SERT	Anxiety-related personality traits, 607834 (3);{Obsessive-compulsive disorder 1}, 164230 (3)
CG1809-PA	171760	NP_001120973	3e-99	ALPL;HOPS;TNSALP	ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP	Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3)
CG8153-PA	278720	NP_001139241	3e-99	XPC;XPCC	XERODERMA PIGMENTOSUM III; XP3;XP, GROUP C;XPC GENE;XPCC	Xeroderma pigmentosum, group C (3)
CG8153-PC	278720	NP_001139241	3e-99	XPC;XPCC	XERODERMA PIGMENTOSUM III; XP3;XP, GROUP C;XPC GENE;XPCC	Xeroderma pigmentosum, group C (3)
CG8556-PA	602049	NP_002863	3e-99	RAC2	RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC2	Neutrophil immunodeficiency syndrome, 608203 (3)
CG14026-PA	601300	NP_004293	3e-99	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG14026-PB	601300	NP_004293	3e-99	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG14026-PD	601300	NP_004293	3e-99	ACVR1B;ACVRLK4;ALK4	ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4	Pancreatic cancer, somatic (3)
CG9000-PA	606480	NP_005848	3e-99	FACE1;MADB;STE24;ZMPSTE24	FACE1;STE24, S. CEREVISIAE, HOMOLOG OF	Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3);Restrictive dermopathy, lethal, 275210 (3)
CG14869-PA	608990	NP_112219	3e-99	ADAMTS10;WMS	1 MOTIF, 10; ADAMTS10	Weill-Marchesani syndrome, recessive, 277600 (3)
CG31096-PA	606655	NP_570718	3e-99	LGR8;GREAT	GPR106;GREAT	Cryptorchidism, bilateral, 219050 (3)
CG8075-PA	610132	NP_620409	3e-99	STBM2;VANGL1	STRABISMUS, DROSOPHILA, HOMOLOG OF, 2; STB2; STBM2;VAN GOGH, DROSOPHILA, HOMOLOG OF, 1	Caudal regression syndrome, 600145 (3);Neural tube defects, 182940 (3)
CG5432-PA	612724	NP_000026	4e-99	ALDOB	ALDOLASE 2; ALDO2;ALDOLASE B; ALDB;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B	Fructose intolerance, 229600 (3)
CG15792-PC	602129	NP_001123537	4e-99	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG15792-PD	602129	NP_001123537	4e-99	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG3985-PD	313440	NP_008881	4e-99	SYN1	BRAIN PROTEIN 4.1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
CG3985-PF	313440	NP_008881	4e-99	SYN1	BRAIN PROTEIN 4.1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
CG14869-PB	608990	NP_112219	4e-99	ADAMTS10;WMS	1 MOTIF, 10; ADAMTS10	Weill-Marchesani syndrome, recessive, 277600 (3)
CG3725-PB	182340	NP_000693	5e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG3725-PC	182340	NP_000693	5e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG3725-PD	182340	NP_000693	5e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG3725-PE	182340	NP_000693	5e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG3725-PF	182340	NP_000693	5e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG3725-PG	182340	NP_000693	5e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG3725-PH	182340	NP_000693	5e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG7123-PA	156225	NP_001073291	5e-99	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG7123-PB	156225	NP_001073291	5e-99	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG3985-PF	313440	NP_598006	5e-99	SYN1	BRAIN PROTEIN 4.1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
CG7806-PA	601107	NP_000383	6e-99	ABCC2;CMOAT	MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2;MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT	Dubin-Johnson syndrome, 237500 (3)
CG7123-PA	156225	NP_000417	6e-99	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG7123-PB	156225	NP_000417	6e-99	LAMA2;LAMM	LAMININ 2, HEAVY CHAIN	Muscular dystrophy, congenital merosin-deficient, 607855 (3);Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
CG10524-PA	176960	NP_002728	6e-99	PKCA;PRKCA	PKCA	Pituitary tumor, invasive (3)
CG12602-PA	604592	NP_006010	6e-99	OC116;OPTB1;TCIRG1;TIRC7	ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3	Osteopetrosis, recessive 1, 259700 (3)
CG3985-PD	313440	NP_598006	7e-99	SYN1	BRAIN PROTEIN 4.1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
CG3725-PA	182340	NP_000693	8e-99	ATP1A2;FHM2;MHP2	Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;Na,K-ATPase, ALPHA-B POLYPEPTIDE;SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE	Alternating hemiplegia of childhood, 104290 (3);Migraine, familial basilar, 602481 (3);Migraine, familial hemiplegic, 2, 602481 (3)
CG12008-PB	102573	NP_001094	8e-99	ACTN2;CMD1AA		Cardiomyopathy, dilated, 1AA, 612158 (3)
CG12008-PA	102573	NP_001094	9e-99	ACTN2;CMD1AA		Cardiomyopathy, dilated, 1AA, 612158 (3)
CG5670-PB	108740	NP_001672	9e-99	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG5670-PC	108740	NP_001672	9e-99	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG5670-PE	108740	NP_001672	9e-99	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG15792-PD	602129	NP_004136	9e-99	CELIAC4;MYO9B;MYR5	MYOSIN, RAT, HOMOLOG OF; MYR5	{Celiac disease, susceptibility to, 4}, 609753 (3)
CG5670-PB	108740	NP_733765	9e-99	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG5670-PC	108740	NP_733765	9e-99	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG5670-PE	108740	NP_733765	9e-99	ATP2A2;ATP2B;DAR	ATP2B;SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2	Acrokeratosis verruciformis, 101900 (3);Darier disease, 124200 (3)
CG17109-PA	104620	NP_000657	1e-98	ACY1;ACY1D	ACYLASE;N-ACYL-L-AMINO ACID AMIDOHYDROLASE	Aminoacylase 1 deficiency, 609924 (3)
CG12008-PC	102573	NP