DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Retinal pigment epithelial atrophy ×

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:	C1840457
Disease:	Retinal pigment epithelial atrophy

Retinal pigment epithelial atrophy

phenotype

0.100

None

0