Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Molecular cloning and characterization of the rat NMDA receptor. 1834949

1991

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays. 2516786

1989

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus. 6306230

1983

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor. 7679115

1993

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Evidence for a tetrameric structure of recombinant NMDA receptors. 9526012

1998

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR The glutamate story. 16402093

2006

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR NMDA receptors, glial cells, and clinical medicine. 16600850

2006

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning. 16635252

2006

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain. 17315208

2007

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR The chromosome 9q subtelomere deletion syndrome. 17910072

2008

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR The NCBI BioSystems database. 19854944

2010

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276

2010

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Overstimulation of NMDA receptors impairs early brain development in vivo. 22606296

2012

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429

2013

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Functional insights from glutamate receptor ion channel structures. 22974439

2013

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818

2013

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Integrative mechanisms of oriented neuronal migration in the developing brain. 23937349

2013

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2015

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo. 25838242

2015

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 25864721

2015

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2017

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 GeneticVariation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072

2017