Gene: GRIN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group BEFREE Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders. 28051072 2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group 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 		0.130 GeneticVariation group BEFREE De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features. 27164704 2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 25864721 2015
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group BEFREE Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. 25864721 2015
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group 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 		0.130 GeneticVariation group CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429 2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR Integrative mechanisms of oriented neuronal migration in the developing brain. 23937349 2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR Functional insights from glutamate receptor ion channel structures. 22974439 2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR Overstimulation of NMDA receptors impairs early brain development in vivo. 22606296 2012
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group 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 		0.130 GeneticVariation group CLINVAR The NCBI BioSystems database. 19854944 2010
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group 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 		0.130 GeneticVariation group 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 		0.130 GeneticVariation group CLINVAR The chromosome 9q subtelomere deletion syndrome. 17910072 2007
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR NMDA receptors, glial cells, and clinical medicine. 16600850 2006
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group 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 		0.130 GeneticVariation group CLINVAR The glutamate story. 16402093 2006
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR Evidence for a tetrameric structure of recombinant NMDA receptors. 9526012 1998
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.130 GeneticVariation group CLINVAR Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor. 7679115 1993