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: 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: 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: 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
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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype 0.010 None 1.000 1 0 1997 1997
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: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		disease 0.220 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: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.120 None 1.000 2 1 1998 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		disease 0.010 None 1.000 1 0 1998 1998
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: C0339526
Disease: Autosomal recessive retinitis pigmentosa
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: 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: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.030 None 1.000 3 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: C0039292
Disease: Tangier Disease
Tangier Disease 		disease 0.020 None 1.000 2 0 1999 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0019340
Disease: Herpes NOS
Herpes NOS 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group 0.010 None 1.000 1 0 1999 1999
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: 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: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		group 0.010 None 1.000 1 0 2000 2000