Source: HPO

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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.700 strong 0.957 0 0 1997 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 0 0 2000 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 0 0 2000 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 0 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: C0456909
Disease: Blindness
Blindness
phenotype 0.150 None 1.000 0 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: C0028754
Disease: Obesity
Obesity
disease 0.130 None 1.000 0 0 2018 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C3549703
Disease: Retinal thinning
Retinal thinning
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
Attenuation of retinal blood vessels
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
Paroxysmal involuntary eye movements
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology
disease 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
disease 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation
disease 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
phenotype 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C4021559
Disease: Retinitis pigmentosa inversa
Retinitis pigmentosa inversa
disease 0.100 None 0 0