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: 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: 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: 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: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
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: 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: 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: 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: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2006 2008