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: 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: 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: 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: 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Integrative mechanisms of oriented neuronal migration in the developing brain. 23937349

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Integrative mechanisms of oriented neuronal migration in the developing brain. 23937349

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Functional insights from glutamate receptor ion channel structures. 22974439

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Functional insights from glutamate receptor ion channel structures. 22974439

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Overstimulation of NMDA receptors impairs early brain development in vivo. 22606296

2012
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Overstimulation of NMDA receptors impairs early brain development in vivo. 22606296

2012
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011