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: 10142
Gene Symbol: AKAP9
AKAP9
A-kinase anchoring protein 9 0.681 0.379 3.1E-16
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11
disease 0.700 limited 2 0 2002 2008
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.696 0.276 5.0E-05
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
disease 0.940 definitive 1.000 6 0 2010 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin, alpha 1, skeletal muscle 0.590 0.586 9.5E-07
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.320 1.000 3 0 2001 2012
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin, alpha 1, skeletal muscle 0.590 0.586 9.5E-07
Cardiomyopathy, Hypertrophic, Familial
disease 0.300 3 0 2005 2012
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin, alpha 2, smooth muscle, aorta 0.540 0.690 0.93
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.320 definitive 1.000 7 0 2000 2016
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin, alpha, cardiac muscle 1 0.656 0.414 0.78
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.660 definitive 0.833 11 0 1999 2017
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin, alpha, cardiac muscle 1 0.656 0.414 0.78
Cardiomyopathy, Hypertrophic, Familial
disease 0.420 definitive 1.000 11 0 1999 2017
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
activating transcription factor 6 0.570 0.759 3.4E-07
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
disease 0.720 strong 1.000 2 0 2015 2017
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
acyl-CoA synthetase long chain family member 4 0.609 0.552 0.99
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
disease 0.520 moderate 1.000 7 0 2002 2017
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
adaptor related protein complex 1 subunit sigma 2 0.676 0.414 0.88
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
disease 0.300 definitive 12 0 1991 2016
Entrez Id: 107
Gene Symbol: ADCY1
ADCY1
adenylate cyclase 1 0.762 0.310 1.00
CUI: C1857809
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 44
DEAFNESS, AUTOSOMAL RECESSIVE 44
disease 0.600 limited 1 0 2005 2015
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.639 0.345
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2
disease 0.550 definitive 1.000 8 0 2004 2016
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.639 0.345
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II
disease 0.510 definitive 1.000 8 0 2004 2016
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
AF4/FMR2 family member 2 0.707 0.345 1.00
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
disease 0.320 definitive 1.000 10 0 1993 2014
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1, centrosome and basal body associated protein 0.590 0.621 7.8E-58
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
disease 1.000 definitive 0.968 5 0 2002 2017
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
alpha kinase 3 0.834 0.276 4.2E-24
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.300 strong 4 0 2001 2016
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
alpha kinase 3 0.834 0.276 4.2E-24
Cardiomyopathy, Hypertrophic, Familial
disease 0.400 strong 4 0 2001 2016
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2
angiotensin II receptor type 2 0.554 0.621 8.2E-03
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
disease 0.500 disputed 5 0 2002 2013
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
ankyrin repeat domain 1 0.656 0.552 3.6E-10
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.520 limited 1.000 3 0 2009 2015
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
ankyrin repeat domain 1 0.656 0.552 3.6E-10
Cardiomyopathy, Hypertrophic, Familial
disease 0.300 limited 3 0 2009 2015
Entrez Id: 324
Gene Symbol: APC
APC
APC, WNT signaling pathway regulator 0.397 0.828 1.00
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
disease 0.300 definitive 6 0 1993 1996
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
Hereditary Nonpolyposis Colorectal Neoplasms
group 0.300 moderate 6 0 2013 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
Hereditary non-polyposis colorectal cancer syndrome
disease 0.300 moderate 6 0 2013 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
Hereditary Nonpolyposis Colorectal Cancer
disease 0.310 moderate 1.000 6 0 2006 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 definitive 0.923 5 0 1998 2016