Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. | 28095420 | 2017 |
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0.700 | GeneticVariation | UNIPROT | De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. | 28389307 | 2017 |
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0.700 | GeneticVariation | UNIPROT | GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. | 28228639 | 2017 |
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0.700 | GeneticVariation | UNIPROT | Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. | 27164704 | 2016 |
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0.700 | GeneticVariation | UNIPROT | GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. | 25864721 | 2015 |
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0.700 | GeneticVariation | UNIPROT | Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. | 25167861 | 2014 |
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0.700 | GeneticVariation | UNIPROT | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. | 21376300 | 2011 |