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Genes:
ABCB4, ADA, ANO7, ASMTL, ATF1, ATP6V0A2, ATP8B1, B3GALTL, CACNA1H, CCDC88C, CLEC2D, COL4A4, DBH, DCC, DNAH9, DNMT3B, DSP, DYSF, EHMT2, GALC, GFER, GRID1, GRIK4, GRM6, HLA-A, HLA-C, HPS5, IRF2, ITGA11, ITGA2B, ITGA4, ITPR1, KCNIP4, KLK3, KRT75, LIG1, LRP1, LRP2, LRPAP1, LTBP4, MEF2A, MLC1, MLXIPL, MMEL1, MYH1, MYH13, MYH6, MYOM1, NAV2, NCAPD2, NCKAP1, NPC1, PDLIM3, PKD1L1, PLCB1, PXDN, RYR3, SDHA, SERPINB11, SGCG, SMARCAD1, SNAPC4, SRGAP2, SUPT16H, TEAD1, TIMM44, TNNI2, WDR62,

+ Genes associated with diseases 41

Genes at Omim

ABCB4, ADA, ATP6V0A2, ATP8B1, CACNA1H, CCDC88C, COL4A4, DBH, DCC, DNAH9, DNMT3B, DSP, DYSF, GALC, GFER, GRM6, HLA-A, HLA-C, HPS5, ITGA2B, ITPR1, KRT75, LRP1, LRP2, LRPAP1, LTBP4, MEF2A, MLC1, MYH6, NCAPD2, NPC1, NPC1, PKD1L1, PLCB1, PXDN, SDHA, SGCG, SMARCAD1, TEAD1, TNNI2, WDR62,

ABCB4	Gallbladder disease 1, 600803 (3) Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3) Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ADA	Adenosine deaminase deficiency, partial, 102700 (3) Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ATP6V0A2	Cutis laxa, autosomal recessive, type IIA, 219200 (3) Wrinkly skin syndrome, 278250 (3)
ATP8B1	Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CACNA1H	Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CCDC88C	Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3)
COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
DBH	Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DCC	Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3) Colorectal cancer, somatic, 114500 (3) Esophageal carcinoma, somatic, 133239 (3) Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DNAH9	Ciliary dyskinesia, primary, 40, 618300 (3)
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DSP	Arrhythmogenic right ventricular dysplasia 8, 607450 (3) Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) Epidermolysis bullosa, lethal acantholytic, 609638 (3) Keratosis palmoplantaris striata II, 612908 (3) Skin fragility-woolly hair syndrome, 607655 (3)
DYSF	Miyoshi muscular dystrophy 1, 254130 (3) Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3) Myopathy, distal, with anterior tibial onset, 606768 (3)
GALC	Krabbe disease, 245200 (3)
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
GRM6	Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HPS5	Hermansky-Pudlak syndrome 5, 614074 (3)
ITGA2B	Glanzmann thrombasthenia, 273800 (3) Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITPR1	Gillespie syndrome, 206700 (3) Spinocerebellar ataxia 15, 606658 (3) Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KRT75	{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LRP1	?Keratosis pilaris atrophicans, 604093 (3)
LRP2	Donnai-Barrow syndrome, 222448 (3)
LRPAP1	Myopia 23, autosomal recessive, 615431 (3)
LTBP4	Cutis laxa, autosomal recessive, type IC, 613177 (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MYH6	Atrial septal defect 3, 614089 (3) Cardiomyopathy, dilated, 1EE, 613252 (3) Cardiomyopathy, hypertrophic, 14, 613251 (3) {Sick sinus syndrome 3}, 614090 (3)
NCAPD2	?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NPC1	{Nasopharyngeal carcinoma 1} (2)
NPC1	Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PLCB1	Epileptic encephalopathy, early infantile, 12, 613722 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SGCG	Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SMARCAD1	Adermatoglyphia, 136000 (3) Basan syndrome, 129200 (3) Huriez syndrome, 181600 (3)
TEAD1	Sveinsson chorioretinal atrophy, 108985 (3)
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

ABCB4, ADA, ATP6V0A2, ATP8B1, CCDC88C, COL4A4, DBH, DCC, DNMT3B, DSP, DYSF, GALC, GFER, GRIK4, GRM6, HLA-A, HPS5, ITGA2B, ITPR1, KRT75, LRP1, LRP2, LRPAP1, LTBP4, MLC1, MYH6, NPC1, PLCB1, PXDN, SDHA, SGCG, SMARCAD1, TEAD1, TNNI2, WDR62,

ABCB4	Cholestasis, progressive familial intrahepatic 3 Low phospholipid-associated cholelithiasis 1 Cholestasis, oral contraceptives induced Cholestasis, familial intrahepatic, of pregnancy Gallbladder disease 1
ADA	Severe combined immunodeficiency due to adenosine deaminase deficiency
ATP6V0A2	Cutis laxa, autosomal recessive, type IIA Wrinkly skin syndrome
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CCDC88C	Spinocerebellar ataxia 40
COL4A4	Alport syndrome, autosomal recessive
DBH	Dopamine beta-hydroxylase deficiency
DCC	Mirror movements 1
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DSP	Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DYSF	Miyoshi muscular dystrophy 1 Muscular dystrophy, limb-girdle, type 2B Myopathy, distal, with anterior tibial onset
GALC	Krabbe disease
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GRIK4	Response to antidepressant treatment with citalopram
GRM6	Night blindness, congenital stationary, type 1B
HLA-A	Drug-induced toxicity, susceptibility to
HPS5	Hermansky-Pudlak syndrome 5
ITGA2B	Glanzmann thrombasthenia
ITPR1	Spinocerebellar ataxia 15 Spinocerebellar ataxia 29
KRT75	Pseudofolliculitis barbae
LRP1	Schizophrenia
LRP2	Donnai-Barrow syndrome Faciooculoacousticorenal syndrome
LRPAP1	Myopia 23, autosomal recessive
LTBP4	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts
MYH6	Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D
PLCB1	Epileptic encephalopathy, early infantile, 12
PXDN	Corneal opacification with other ocular anomalies
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SGCG	Muscular dystrophy, limb-girdle, type 2C
SMARCAD1	Adermatoglyphia
TEAD1	Sveinsson choreoretinal atrophy
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Genes at HGMD

Summary

Number of Variants: 70
Number of Genes: 68

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ABCB4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	7	rs2109505 dbSNP Clinvar	87079406	0.0	T	A	PASS	0/1	46	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.26138	0.26140	0.22490				None None	None None None None	ABCB4\|0.238504845\|32.55%
ADA
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	20	rs394105 dbSNP Clinvar	43264927	0.0	C	T	PASS	1/1	74	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.98223	0.98220	0.01538				None None	None None None None	ADA\|0.574821556\|12.82%
ANO7
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	2	rs2074840 dbSNP Clinvar	242141719	0.0	C	T	PASS	1/1	74	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.41474	0.41470	0.36491				None None	None None None None	ANO7\|0.004152604\|86.8%
ASMTL
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	X	rs3183025 dbSNP Clinvar	1554649	0.0	T	C	PASS	0/1	93	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.38478	0.38480	0.37514				None None	None None None None	ASMTL\|0.001996891\|91.03%
ATF1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	12	rs1129406 dbSNP Clinvar	51203371	0.0	C	T	PASS	1/1	34	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.39337	0.39340	0.44687				None None	None None None None	ATF1\|0.419687385\|19.6%
ATP6V0A2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	12	rs7135542 dbSNP Clinvar	124229429	0.0	T	C	PASS	0/1	62	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.79952	0.79950	0.30463				None None	None None None None	ATP6V0A2\|0.124260234\|46.77%
ATP8B1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	18	rs319438 dbSNP Clinvar	55364852	0.0	A	G	PASS	1/1	30	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.99461	0.99460	0.00692				None None	None None None None	ATP8B1\|0.161108429\|41.4%
B3GALTL
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	13	rs4943266 dbSNP Clinvar	31821992	0.0	T	C	PASS	1/1	26	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.97544	0.97540	0.03601				None None	None None None None	B3GALTL\|0.110722838\|49.06%
CACNA1H
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	16	rs61910714 dbSNP Clinvar	1260969	0.0	G	A	PASS	0/1	32	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.06490	0.06490	0.09794				None None	None None None None	CACNA1H\|0.025235592\|71.7%
CCDC88C
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	exome_all	14	rs1970912 dbSNP Clinvar	91773568	0.0	T	C	PASS	0/1	58	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.48043	0.48040	0.42060				None None	None None None None	CCDC88C\|0.052356783\|61.96%