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:

rs1554770624

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28095420

2017

dbSNP:

rs1554770624

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28228639

2017

dbSNP:

rs1554770624

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28389307

2017

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28389307

2017

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28095420

2017

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28228639

2017

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28095420

2017

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

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:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28228639

2017

dbSNP:

rs869312865

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

GRIN1;LOC105376328

CUI:	C4693325
Disease:

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

0.800

GeneticVariation

UNIPROT

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

28051072

2017

dbSNP:

rs1554770624

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

27164704

2016

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

27164704

2016

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

27164704

2016

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs869312865

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

GRIN1;LOC105376328

CUI:	C4693325
Disease:

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

0.800

GeneticVariation

UNIPROT

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

27164704

2016

dbSNP:

rs1554770624

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

25864721

2015

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

25864721

2015

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

25864721

2015

dbSNP:

rs1554770624

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

25167861

2014

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

25167861

2014

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

25167861

2014

dbSNP:

rs1554770624

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

21376300

2011

dbSNP:

rs1554770667

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

21376300

2011

dbSNP:

rs797045047

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

21376300

2011

dbSNP:

rs1060500046

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

CUI:	C3280282
Disease:

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

0.800

GeneticVariation

UNIPROT