Source: UNIPROT

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
Glucocorticoid deficiency with achalasia
disease 0.800 0.892 1 2 2000 2016
Entrez Id: 16
Gene Symbol: AARS
AARS
alanyl-tRNA synthetase 0.667 0.345 8.1E-09
Charcot-Marie-Tooth Disease, Axonal, Type 2n
disease 0.700 3 2 2010 2016
Entrez Id: 16
Gene Symbol: AARS
AARS
alanyl-tRNA synthetase 0.667 0.345 8.1E-09
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
disease 0.600 2 3 2015 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.663 0.379 2.7E-17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
disease 0.700 1 2 2011 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.663 0.379 2.7E-17
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
disease 0.600 1 3 2014 2014
Entrez Id: 9625
Gene Symbol: AATK
AATK
apoptosis associated tyrosine kinase 0.834 0.103 0.56
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease 0.300 0 0
Entrez Id: 9625
Gene Symbol: AATK
AATK
apoptosis associated tyrosine kinase 0.834 0.103 0.56
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma
disease 0.300 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.639 0.276 6.0E-03
Gamma aminobutyric acid transaminase deficiency
disease 0.700 1 1 1984 2015
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
disease 1.000 0.989 18 17 1999 2017
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial
disease 0.800 0.966 6 5 1995 2015
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
disease 0.600 1.000 6 5 1999 2017
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C3165209
Disease: High density lipoprotein deficiency
High density lipoprotein deficiency
disease 0.300 6 5 1999 2005
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease 0.520 1.000 1 1 2003 2013
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
ATP binding cassette subfamily A member 12 0.648 0.517 1.3E-14
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2
disease 0.620 1.000 5 6 1996 2012
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
ATP binding cassette subfamily A member 12 0.648 0.517 1.3E-14
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
disease 1.000 1.000 2 2 2005 2018
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
ATP binding cassette subfamily A member 12 0.648 0.517 1.3E-14
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis
disease 0.800 2 2 2006 2017
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
ATP binding cassette subfamily A member 12 0.648 0.517 1.3E-14
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
disease 0.300 1 1 2008 2008
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
ATP binding cassette subfamily A member 3 0.614 0.448 6.8E-08
Surfactant Metabolism Dysfunction, Pulmonary, 3
disease 0.700 1 4 2004 2015
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
ATP binding cassette subfamily A member 3 0.614 0.448 6.8E-08
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.300 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype 0.980 1.000 19 175 1997 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease 1.000 0.913 19 175 1997 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
Retinal Dystrophy, Early Onset Severe
disease 0.600 19 175 1997 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C4282180
Disease: Juvenile macular degeneration
Juvenile macular degeneration
disease 0.700 19 175 1997 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder)
disease 0.800 3 15 1997 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
Macular Degeneration, Age-Related, 2
disease 0.600 2 10 1997 2014