DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa, C0035334

Gene: RBP4 ×

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5950
Gene Symbol:	RBP4

RBP4

0.310

GeneticVariation

disease

BEFREE

This study identifies the RBP4 splice site change as the cause of RP in this pedigree.

2012

Entrez Id:	5950
Gene Symbol:	RBP4

RBP4

0.310

Biomarker

disease

GENOMICS_ENGLAND