DisGeNET - a database of gene-disease associations

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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:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.910

GeneticVariation

BEFREE

Mutations in the glutamate receptor metabotropic 6 gene (GRM6) have been identified in patients with congenital stationary night blindness (CSNB1B).

2009