Source: ORPHANET

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 1 0 2015 2016
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		disease 0.800 None 0.980 3 0 2000 2019
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB 		alpha and gamma adaptin binding protein 0.695 0.538 3.9E-07
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		disease 0.720 strong 1.000 2 0 2012 2017
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		disease 0.320 None 1.000 1 0 2014 2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		disease 0.710 strong 1.000 1 0 2011 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		disease 0.310 None 1.000 1 0 2016 2018
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 3 0 1968 2016
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		disease 0.500 None 1.000 3 0 2000 2013
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		disease 0.600 moderate 1.000 2 0 2000 2013
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		disease 0.500 None 1.000 2 0 2000 2013
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		disease 0.700 None 1.000 2 0 1998 2019
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		phenotype 0.300 None 1.000 2 0 2004 2012
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		disease 0.800 limited 0.972 2 0 1999 2017
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		disease 1.000 None 0.991 1 0 1999 2019
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.700 limited 1.000 4 0 2003 2020
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease 0.900 strong 1.000 1 0 2005 2019
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		disease 0.900 None 1.000 1 0 2006 2016
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease 0.400 None 1.000 1 0 2006 2018
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		disease 0.400 None 1.000 1 0 2005 2014
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		disease 0.400 None 1.000 1 0 2006 2018
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease 0.320 None 1.000 1 0 2008 2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		disease 0.700 strong 1.000 1 0 2004 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease 0.400 None 1.000 3 0 1998 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 1.000 limited 0.995 1 0 1997 2020