DisGeNET - a database of gene-disease associations

Source: HPO

Gene: ABCA4 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C3714756
Disease:	Intellectual Disability

Intellectual Disability

group

0.100

None

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C3665386
Disease:	Abnormal vision

Abnormal vision

phenotype

0.100

None

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C1840457
Disease:	Retinal pigment epithelial atrophy

Retinal pigment epithelial atrophy

phenotype

0.100

None

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C1840077
Disease:	Anteverted nostril

Anteverted nostril

phenotype

0.100

None

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

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C0029089
Disease:	Ophthalmoplegia

Ophthalmoplegia

phenotype

0.100

None

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

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

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

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

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

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

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

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

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

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

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C1836926
Disease:	Bone spicule pigmentation of the retina

Bone spicule pigmentation of the retina

phenotype

0.100

None

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

2016

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C0554970
Disease:	Pallor of optic disc

Pallor of optic disc

phenotype

0.100

None

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C0522214
Disease:	Abnormal visual evoked potential

Abnormal visual evoked potential

phenotype

0.100

None

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C0476397
Disease:	Electroretinogram abnormal

Electroretinogram abnormal

phenotype

0.100

None

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

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C0235095
Disease:	Visual field constriction

Visual field constriction

phenotype

0.100

None

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

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

ATP binding cassette subfamily A member 4

0.493

0.769

5.3E-48

CUI:	C0152191
Disease:	Scotoma, Central

Scotoma, Central

phenotype

0.100

None