DisGeNET - a database of gene-disease associations

GRIN1, glutamate ionotropic receptor NMDA type subunit 1, 2902

N. diseases: 150; N. variants: 25

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:

rs869312865

Entrez Id:	2902;105376328
Gene Symbol:	GRIN1;LOC105376328

GRIN1;LOC105376328

CUI:	C0014544
Disease:

Epilepsy

0.010

GeneticVariation

BEFREE

The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy.

28051072

2017

dbSNP:

rs869312865

Entrez Id:	2902;105376328
Gene Symbol:	GRIN1;LOC105376328

GRIN1;LOC105376328

CUI:	C0036857
Disease:

Severe intellectual disability

0.010

GeneticVariation

BEFREE

28051072

2017

dbSNP:

rs1126442

Entrez Id:	2902;105376328
Gene Symbol:	GRIN1;LOC105376328

GRIN1;LOC105376328

CUI:	C0349204
Disease:

Nonorganic psychosis

0.010

GeneticVariation

BEFREE

The present findings indicate that the rs1126442 of GRIN1 contributes to the genetic vulnerability to psychosis in METH-dependent subjects in the Thai population.

23880023

2013

dbSNP:

rs1126442

Entrez Id:	2902;105376328
Gene Symbol:	GRIN1;LOC105376328

GRIN1;LOC105376328

CUI:	C0033975
Disease:

Psychotic Disorders

0.010

GeneticVariation

BEFREE

The present findings indicate that the rs1126442 of GRIN1 contributes to the genetic vulnerability to psychosis in METH-dependent subjects in the Thai population.

23880023

2013

dbSNP:

rs2301364

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0030567
Disease:

Parkinson Disease

0.010

GeneticVariation

BEFREE

Genotyping assays were used to screen for polymorphisms in the GRIN1 (rs2301364 T>C, rs28489906 T>C, and rs4880213 T>C) and GRIN2B (C366G, C2664T, and rs1805476 T>G) genes, and logistic regression analysis was then used to assess the association between these single nucleotide polymorphisms (SNPs) and PD susceptibility.

20438806

2010

dbSNP:

rs28489906

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0030567
Disease:

Parkinson Disease

0.010

GeneticVariation

BEFREE

20438806

2010

dbSNP:

rs10747050

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0036341
Disease:

Schizophrenia

0.010

GeneticVariation

BEFREE

We tested for a potential association between schizophrenia and four single nucleotide polymorphisms (rs4880213, rs11146020, rs6293, and rs10747050) and one microsatellite marker at GRIN1 in a German sample of 354 patients and 323 controls.

17728671

2007

dbSNP:

rs1554770659

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0376532
Disease:

Epilepsy, Rolandic

0.700

CausalMutation

CLINVAR

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

29358611

2018

dbSNP:

rs1554770044

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs1554770044

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

28051072

2017

dbSNP:

rs1554770046

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

28051072

2017

dbSNP:

rs1554770046

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs1554770054

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs1554770054

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

28095420

2017

dbSNP:

rs1554770054

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

28228639

2017

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

28051072

2017

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

28051072

2017

dbSNP:

rs387906635

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

28228639

2017

dbSNP:

rs387906635

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

28095420

2017

dbSNP:

rs387906635

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT

0.700

GeneticVariation

UNIPROT

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

28051072

2017