Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.470 | GeneticVariation | group | BEFREE | Heterozygous loss-of-function mutations in GRIN2B, a subunit of the NMDA receptor, cause intellectual disability and language impairment. | 29937144 | 2018 | ||||
|
0.470 | GeneticVariation | group | BEFREE | Most rare variants in GluN2A were associated with epilepsy, whereas GluN2B variants were associated with intellectual disability with or without seizures. | 27839871 | 2016 | ||||
|
0.470 | GeneticVariation | group | BEFREE | We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. | 24272827 | 2014 | ||||
|
0.470 | GeneticVariation | group | BEFREE | Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. | 23918416 | 2013 | ||||
|
0.470 | GeneticVariation | group | BEFREE | Mutations in the GRIN2B gene (MRD6, MIM613970) have been identified as a common cause of ID (prevalence of 0.5 - 1% in individuals with ID) associated with EEG and behavioral problems. | 23718928 | 2013 | ||||
|
0.470 | Biomarker | group | BEFREE | Just recently, de novo mutations in SYNGAP1, STXBP1, MEF2C, and GRIN2B were reported as relatively common causes of ID in such individuals. | 22405089 | 2012 | ||||
|
0.470 | Biomarker | group | CTD_human | Sequencing of GRIN2B in 468 individuals with mental retardation revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. | 20890276 | 2010 | ||||
|
0.470 | GeneticVariation | group | BEFREE | Sequencing of GRIN2B in 468 individuals with mental retardation revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. | 20890276 | 2010 | ||||
|
0.470 | Biomarker | group | HPO |