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: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.600 disputed 1.000 2 0 2015 2016
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
Noonan syndrome-like disorder with loose anagen hair
disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
Noonan-Like Syndrome With Loose Anagen Hair
disease 0.300 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias
disease 0.720 moderate 1.000 6 0 1968 2016
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
disease 0.800 definitive 0.950 6 0 1996 2020
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.977 5 0 1981 2020
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy
disease 0.600 definitive 0.974 5 0 1984 2019
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
disease 0.970 definitive 0.833 6 0 2010 2019
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
acyl-CoA dehydrogenase family member 8 0.506 0.885 5.6E-14
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
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
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
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
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
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
Very long chain acyl-CoA dehydrogenase deficiency
disease 1.000 definitive 0.989 8 0 1985 2020
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
Deficiency of acetyl-CoA acetyltransferase
disease 0.800 definitive 1.000 8 0 1979 2019
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
Mental Retardation, X-Linked Nonsyndromic
disease 0.300 moderate 1.000 7 0 2002 2016
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
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