Source: BEFREE

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 0.995 158 12 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 77 15 1997 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.700 strong 0.957 66 7 1997 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group 0.200 None 0.977 44 3 1992 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.974 29 6 1998 2019
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 28 9 1998 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease 0.200 None 1.000 18 3 2000 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease 0.200 None 1.000 17 3 2000 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
disease 0.200 None 1.000 14 0 1999 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.200 None 0.967 14 2 1997 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
Autosomal recessive retinitis pigmentosa
disease 0.100 None 0.909 11 3 1999 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy
disease 0.090 None 1.000 9 2 1997 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.190 None 1.000 9 2 1997 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.070 None 1.000 7 0 1999 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 0.070 None 1.000 7 0 2010 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype 0.160 None 1.000 6 0 2004 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
group 0.150 None 1.000 5 1 2007 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.150 None 1.000 5 0 2004 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease 0.050 None 1.000 5 0 2006 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.040 None 1.000 4 0 2001 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group 0.040 None 1.000 4 0 2010 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.340 None 1.000 4 0 2000 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group 0.040 None 1.000 4 0 2010 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.030 None 1.000 3 0 2004 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
disease 0.030 None 1.000 3 0 2001 2012