GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16
Disease: Stargardt's disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 GeneticVariation phenotype BEFREE Here, we report a case of Stargardt disease and congenital stationary night blindness (CSNB) in the same patient, and the identification of two novel in-frame deletions in the GRM6 gene. 24397708 2014