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: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.567 0.586 1.5E-13
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 6 1 1980 2015
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.663 0.379 2.7E-17
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 4 2 2011 2014
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 4 1 1999 2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 16 3 1994 2018
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
ATP binding cassette subfamily A member 5 0.773 0.276 1.3E-24
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.562 0.724 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 11 1 1991 2017
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.577 0.552 1.1E-07
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 50
Gene Symbol: ACO2
ACO2
aconitase 2 0.636 0.483 0.18
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 4 3 2012 2018
Entrez Id: 54
Gene Symbol: ACP5
ACP5
acid phosphatase 5, tartrate resistant 0.577 0.690 7.0E-02
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 5 2 2011 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.453 0.862 0.99
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 10 3 1999 2017
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin, alpha, cardiac muscle 1 0.656 0.414 0.78
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 5 1 2008 2016
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
actin, gamma 2, smooth muscle, enteric 0.639 0.379 7.2E-02
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 7 3 2009 2018
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.573 0.552 0.38
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 4 1 1996 2015
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase, RNA specific 0.586 0.655 3.7E-02
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 9 1 2003 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.645 0.448 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 22 3 1992 2018
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.667 0.414
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 10 2 2003 2015
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.663 0.517 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 11 4 2001 2017
Entrez Id: 55750
Gene Symbol: AGK
AGK
acylglycerol kinase 0.659 0.483 5.1E-09
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 6 2 2012 2018
Entrez Id: 191
Gene Symbol: AHCY
AHCY
adenosylhomocysteinase 0.627 0.621 3.1E-02
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 5 1 2007 2016
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.486 0.862 7.2E-03
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.558 0.621 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 8 1 1999 2017
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
aldehyde dehydrogenase 5 family member A1 0.609 0.345 3.4E-07
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 6 1 1995 2016
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.594 0.621 3.0E-22
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 9 1 1996 2013
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 0.696 0.621 2.5E-19
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 2
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
ALS2, alsin Rho guanine nucleotide exchange factor 0.663 0.310 3.1E-10
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 7 2 1992 2017