GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16
Disease: Night blindness, congenital stationary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE Genetic variants in LRIT3 have been associated with CSNB in patients although there is limited evidence regarding its apparently critical function in the mGluR6 pathway in ON-BCs. 31578364 2019
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE The discovery of the two novel likely pathogenic variants p.Gly51Val and p.Gly464Arg could broaden our knowledge about the genetics of CSNB and provide insights into the structure and function of the GRM6 protein. 31677249 2019
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE We identified a novel nonsense and a previously reported missense mutation in GRM6 that were responsible for autosomal recessive CSNB in patients of Pakistani decent. 26628857 2015
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease 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
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. 22008250 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 AlteredExpression disease BEFREE Mutations in NYX, GRM6, and TRPM1, expressed in the outer plexiform layer (OPL) lead to disruption of the ON-bipolar cell response and have been seen in patients with cCSNB. 22325361 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 CausalMutation disease CLINVAR A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. 22008250 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE The aim of this study was to identify mutations in the TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness (CSNB). 22735794 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE We analyzed four different Japanese patients with complete CSNB in whom previous molecular examination revealed no mutation in either nyctalopin (NYX) or glutamate receptor, metabotropic 6 (GRM6). 20300565 2010
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE Mutations in the glutamate receptor metabotropic 6 gene (GRM6) have been identified in patients with congenital stationary night blindness (CSNB1B). 19862333 2009
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. 19666700 2009
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GermlineCausalMutation disease ORPHANET This is the first report that shows that CSNB-associated mutations in three different domains of mGluR6 abolish proper protein trafficking. 17405131 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE This is the first report that shows that CSNB-associated mutations in three different domains of mGluR6 abolish proper protein trafficking. 17405131 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease CLINVAR Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. 16249515 2005
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease CTD_human
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease HPO