DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Cone-Rod Dystrophy 2 ×

Gene: RPGRIP1 ×

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:	57096
Gene Symbol:	RPGRIP1

RPGRIP1

CUI:	C3489532
Disease:	Cone-Rod Dystrophy 2

Cone-Rod Dystrophy 2

0.350

GermlineCausalMutation

ORPHANET

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

26992781

2016

Entrez Id:	57096
Gene Symbol:	RPGRIP1

RPGRIP1

CUI:	C3489532
Disease:	Cone-Rod Dystrophy 2

Cone-Rod Dystrophy 2

0.350

GermlineCausalMutation

ORPHANET

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

12920076

2003