DisGeNET - a database of gene-disease associations

Gene: ARL2BP ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23568
Gene Symbol:	ARL2BP

ARL2BP

CUI:	C4747737
Disease:	RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS

RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS

0.900

Biomarker

MGD

ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure.

2018