Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. | 28389307 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. | 28051072 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. | 27164704 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. | 25864721 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo. | 25838242 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. | 25167861 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Functional insights from glutamate receptor ion channel structures. | 22974439 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Integrative mechanisms of oriented neuronal migration in the developing brain. | 23937349 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The NMDA receptor as a target for cognitive enhancement. | 22796429 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | GRIN2A mutations cause epilepsy-aphasia spectrum disorders. | 23933818 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Overstimulation of NMDA receptors impairs early brain development in vivo. | 22606296 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. | 21376300 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The NCBI BioSystems database. | 19854944 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. | 20890276 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain. | 17315208 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The chromosome 9q subtelomere deletion syndrome. | 17910072 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The glutamate story. | 16402093 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | NMDA receptors, glial cells, and clinical medicine. | 16600850 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning. | 16635252 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Evidence for a tetrameric structure of recombinant NMDA receptors. | 9526012 | 1998 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor. | 7679115 | 1993 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Molecular cloning and characterization of the rat NMDA receptor. | 1834949 | 1991 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays. | 2516786 | 1989 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus. | 6306230 | 1983 |