DisGeNET - a database of gene-disease associations

GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434304

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

23714322

2013

dbSNP:

rs62638625

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

23714322

2013

dbSNP:

rs121434304

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

17405131

2007

dbSNP:

rs62638625

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

17405131

2007

dbSNP:

rs121434304

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

15781871

2005

dbSNP:

rs62638625

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

15781871

2005

dbSNP:

rs121434304

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

CausalMutation

CLINVAR

dbSNP:

rs62638197

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

dbSNP:

rs62638197

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

CausalMutation

CLINVAR

dbSNP:

rs62638202

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

CausalMutation

CLINVAR

dbSNP:

rs62638202

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

dbSNP:

rs62638208

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

GeneticVariation

UNIPROT

dbSNP:

rs62638208

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

CausalMutation

CLINVAR

dbSNP:

rs62638625

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.800

CausalMutation

CLINVAR

dbSNP:

rs62638214

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0339527
Disease:

Leber Congenital Amaurosis

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs781463257

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0339535
Disease:

Night blindness, congenital stationary

0.700

CausalMutation

CLINVAR

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

22008250

2012

dbSNP:

rs62638197

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0339535
Disease:

Night blindness, congenital stationary

0.700

GeneticVariation

CLINVAR

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

16249515

2005

dbSNP:

rs1237461749

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0339535
Disease:

Night blindness, congenital stationary

0.700

GeneticVariation

CLINVAR

dbSNP:

rs62638198

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.700

GeneticVariation

UNIPROT

dbSNP:

rs62638214

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.700

CausalMutation

CLINVAR

dbSNP:

rs62638624

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C1850362
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

0.700

CausalMutation

CLINVAR

dbSNP:

rs1413749549

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0339535
Disease:

Night blindness, congenital stationary

0.010

GeneticVariation

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

dbSNP:

rs748724069

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0339535
Disease:

Night blindness, congenital stationary

0.010

GeneticVariation

BEFREE

31677249

2019

dbSNP:

rs11746675

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0271183
Disease:

Severe myopia

0.010

GeneticVariation

BEFREE

The genetic model analysis found that GRM6-rs11746675 and GRM6-rs2067011 were suggestively associated with high myopia in the recessive model (OR=0.54, P=0.004; OR=0.52, P=0.003; respectively).

27034204

2016

dbSNP:

rs2067011

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0271183
Disease:

Severe myopia

0.010

GeneticVariation

BEFREE

Haplotype GAT for GRM6 markers rs2067011-rs2645339-rs762724 showed significance (P=0.0239), but such association did not remain significant after multiple testing corrections.ConclusionsOur data suggested that genetic variants in GRM6 are associated with high myopia.

27034204

2016