Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation BEFREE Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. 23918416

2013

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker HPO