Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500046
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
dbSNP: rs1060500046
rs1060500046
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs10747050
rs10747050
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE We tested for a potential association between schizophrenia and four single nucleotide polymorphisms (rs4880213, rs11146020, rs6293, and rs10747050) and one microsatellite marker at GRIN1 in a German sample of 354 patients and 323 controls. 17728671 2007
dbSNP: rs1126442
rs1126442
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0349204
Disease:
Nonorganic psychosis 		0.010 GeneticVariation BEFREE The present findings indicate that the rs1126442 of GRIN1 contributes to the genetic vulnerability to psychosis in METH-dependent subjects in the Thai population. 23880023 2013
dbSNP: rs1126442
rs1126442
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0033975
Disease:
Psychotic Disorders 		0.010 GeneticVariation BEFREE The present findings indicate that the rs1126442 of GRIN1 contributes to the genetic vulnerability to psychosis in METH-dependent subjects in the Thai population. 23880023 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain. 17315208 2007
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The chromosome 9q subtelomere deletion syndrome. 17910072 2007
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Evidence for a tetrameric structure of recombinant NMDA receptors. 9526012 1998
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR NMDA receptors, glial cells, and clinical medicine. 16600850 2006
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Functional insights from glutamate receptor ion channel structures. 22974439 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning. 16635252 2006
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus. 6306230 1983
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276 2010
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Molecular cloning and characterization of the rat NMDA receptor. 1834949 1991
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Integrative mechanisms of oriented neuronal migration in the developing brain. 23937349 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The glutamate story. 16402093 2006