Source: MGD

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: 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 7 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: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease 0.900 strong 1.000 4 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 4 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: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		disease 0.300 None 1.000 3 0 2007 2007
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 4 0 1997 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		disease 0.220 None 1.000 4 0 1998 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 1.000 None 0.978 4 0 1997 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		disease 0.600 limited 1.000 4 0 1999 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		disease 0.200 None 1.000 4 0 1999 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4282180
Disease: Juvenile macular degeneration
Juvenile macular degeneration 		disease 0.500 None 1.000 4 0 1999 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 2 0 2006 2008
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		disease 0.900 None 1.000 2 0 1998 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		disease 0.800 None 1.000 2 0 1999 2017
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1 		ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C2677101
Disease: Inflammatory Bowel Disease 13
Inflammatory Bowel Disease 13 		disease 0.500 None 1.000 1 0 1998 1998
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease 0.300 None 1.000 3 0 1998 2018
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group 0.210 None 1.000 2 0 1993 2017
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease 0.200 None 1.000 2 0 1993 1994
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease 0.210 None 1.000 2 0 1993 2017
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		disease 0.560 None 0.900 2 0 2004 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.590 None 1.000 2 0 1993 2017
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		disease 0.200 None 1.000 2 0 1993 1994
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.300 None 0.967 0 0 1996 2020
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		disease 0.400 None 1.000 0 0 2001 2015
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease 1.000 None 0.982 2 0 1978 2020
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease 0.700 None 1.000 1 0 2000 2019