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)