Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.430 Biomarker disease BEFREE Genetic and bioinformatic analyses have identified missense mutations in GRIN2B encoding the NMDA receptor GluN2B subunit in autism, intellectual disability, Lennox Gastaut and West Syndromes. 29511171 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.430 GeneticVariation disease BEFREE We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. 28283559 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.430 GeneticVariation disease BEFREE Our study for the first time reveals that common variants and related haplotypes of GRIN2B are associated with autism risk. 25656819 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.430 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.430 GeneticVariation disease CLINVAR