Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		disease 0.780 definitive 0.967 8 0 1988 2020
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C1533587
Disease: Hydroxymethylglutaric aciduria
Hydroxymethylglutaric aciduria 		disease 0.500 definitive 1.000 8 0 1988 2017
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2 		3-hydroxy-3-methylglutaryl-CoA synthase 2 0.666 0.577 4.3E-14
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		disease 0.710 definitive 1.000 8 0 1994 2016
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		disease 0.710 definitive 1.000 7 0 1982 2019
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease 0.940 moderate 1.000 6 0 1972 2012
Entrez Id: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		disease 0.900 definitive 1.000 7 0 1987 2017
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		disease 1.000 definitive 0.987 11 0 1987 2018
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9 		A-kinase anchoring protein 9 0.638 0.385 4.5E-17
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		disease 0.700 limited 1.000 2 0 2002 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		disease 0.970 definitive 0.833 6 0 2010 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		disease 0.800 definitive 1.000 8 0 1979 2019
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.530 1.000 3 0 2001 2013
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 7 0 2000 2016
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.700 definitive 0.962 11 0 1999 2019
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.330 definitive 1.000 18 0 2003 2018
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		disease 0.700 definitive 1.000 3 0 1996 2016
Entrez Id: 22926
Gene Symbol: ATF6
ATF6 		activating transcription factor 6 0.516 0.846 3.2E-07
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		disease 0.700 strong 1.000 2 0 2015 2015
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		disease 0.400 definitive 1.000 11 0 1996 2015
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		disease 0.760 definitive 1.000 11 0 1996 2018
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8 		acyl-CoA dehydrogenase family member 8 0.506 0.885 5.6E-14
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		disease 0.730 definitive 1.000 8 0 2003 2018
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9 		acyl-CoA dehydrogenase family member 9 0.722 0.269 4.5E-08
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		disease 0.610 definitive 1.000 9 0 2002 2016
Entrez Id: 33
Gene Symbol: ACADL
ACADL 		acyl-CoA dehydrogenase long chain 0.736 0.462 1.7E-12
CUI: C0220711
Disease: Long chain acyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency 		disease 0.500 disputed 1.000 4 0 1983 2014
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		disease 1.000 definitive 0.991 6 0 1983 2019
Entrez Id: 35
Gene Symbol: ACADS
ACADS 		acyl-CoA dehydrogenase short chain 0.663 0.538 2.8E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		disease 1.000 definitive 1.000 9 0 1989 2018
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		disease 0.700 definitive 1.000 6 0 2000 2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		disease 1.000 definitive 0.989 8 0 1985 2020