GRIN1, glutamate ionotropic receptor NMDA type subunit 1, 2902
N. diseases: 150; N. variants: 25
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | disease | UNIPROT | GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. | 28228639 | 2017 |
|
0.700 | GeneticVariation | disease | UNIPROT | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. | 25167861 | 2014 |
|
0.700 | GeneticVariation | disease | UNIPROT | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. | 21376300 | 2011 |
|
0.700 | CausalMutation | disease | CLINVAR | |||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |
|
0.700 | GeneticVariation | disease | UNIPROT | Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. | 27164704 | 2016 |
|
0.700 | Biomarker | disease | CTD_human | |||
|
0.700 | GeneticVariation | disease | UNIPROT | De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. | 28389307 | 2017 |
|
0.700 | GeneticVariation | disease | UNIPROT | GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. | 25864721 | 2015 |
|
0.700 | GeneticVariation | disease | CLINVAR | Clinical application of whole-exome sequencing across clinical indications. | 26633542 | 2016 |
|
0.700 | GeneticVariation | disease | UNIPROT | Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. | 28095420 | 2017 |
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. | 28051072 | 2017 |
|
0.700 | GeneticVariation | disease | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 |