Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | GeneticVariation | disease | UNIPROT | Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. | 27839871 | 2016 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. | 27572814 | 2016 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. | 24863970 | 2014 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | De novo mutations in moderate or severe intellectual disability. | 25356899 | 2014 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | 23160955 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. | 20890276 | 2010 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human |