Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 GeneticVariation CLINVAR Molecular cloning and characterization of the rat NMDA receptor. 1834949

1991
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.100 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013