GPR179, G protein-coupled receptor 179, 440435

N. diseases: 23; N. variants: 13
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 Biomarker disease MGD GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation disease CLINVAR Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation disease UNIPROT GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation disease UNIPROT Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 CausalMutation disease CLINVAR
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 Biomarker disease GENOMICS_ENGLAND