rs1554770624, GRIN1
N. diseases: 1
Source: ALL
Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | CausalMutation | CLINVAR | ||||
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | GeneticVariation | UNIPROT | De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. | 28389307 | 2017 | |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | GeneticVariation | UNIPROT | Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. | 27164704 | 2016 | |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | GeneticVariation | UNIPROT | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. | 25167861 | 2014 | |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | GeneticVariation | UNIPROT | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. | 21376300 | 2011 | |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | GeneticVariation | UNIPROT | GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. | 28228639 | 2017 | |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | GeneticVariation | UNIPROT | GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. | 25864721 | 2015 | |
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
|
0.800 | GeneticVariation | UNIPROT | Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. | 28095420 | 2017 |