GPR179, G protein-coupled receptor 179, 440435

N. diseases: 23; N. variants: 13
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875234
rs281875234
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation UNIPROT Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
dbSNP: rs281875234
rs281875234
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation UNIPROT GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
dbSNP: rs281875234
rs281875234
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		A 0.800 CausalMutation CLINVAR