Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.470 GeneticVariation group BEFREE Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. 23918416 2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.470 Biomarker group HPO