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: C4021559
Disease: Retinitis pigmentosa inversa
Retinitis pigmentosa inversa 		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: 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		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: C0028738
Disease: Nystagmus
Nystagmus 		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: C0086543
Disease: Cataract
Cataract 		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: 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: C0017601
Disease: Glaucoma
Glaucoma 		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: C0020619
Disease: Hypogonadism
Hypogonadism 		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: 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
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: 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: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		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: C0022578
Disease: Keratoconus
Keratoconus 		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: C0029124
Disease: Optic Atrophy
Optic Atrophy 		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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		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: 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		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: C0028077
Disease: Nyctalopia
Nyctalopia 		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: C0085636
Disease: Photophobia
Photophobia 		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: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		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: 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: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		phenotype 0.100 None 1.000 0 0 2016 2016
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