Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 AlteredExpression disease BEFREE Using mature miRNA profiling and quantitative real-time PCR (qRT-PCR) in the orbitofrontal cortex (OFC) of SCZ (N = 29; 20 male and 9 female), BD (N = 26; 12 male and 14 female), and unaffected control (N = 25; 21 male and 4 female) subjects, we uncovered that miR-223, an exosome-secreted miRNA that targets glutamate receptors, was increased at the mature miRNA level in the OFC of SCZ and BD patients with positive history of psychosis at the time of death and was inversely associated with deficits in the expression of its targets glutamate ionotropic receptor NMDA-type subunit 2B (GRIN2B) and glutamate ionotropic receptor AMPA-type subunit 2 (GRIA2). 31775160 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE In a recent weighted burden analysis of exome-sequenced schizophrenia cases and controls, we noted modest statistical evidence for an enrichment of rare, functional variants in FYN, GRIN1, and GRIN2B in schizophrenia cases. 30664045 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 PosttranslationalModification disease BEFREE Changes in GRIN2B promoter methylation may represent an environmental influence contributing to glutamatergic dysfunction in psychosis and relate to lower cognitive performance in subjects with first-episode schizophrenia. 30785307 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE <i>N</i>-Methyl D-aspartate receptor subtype 2B (NR2B)-containing NMDAR are associated with cognitive dysfunction in schizophrenia. 29695955 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 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: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 AlteredExpression disease BEFREE Accordingly, we found that upon crack inhalation mice have shown decreased social interaction and working memory deficits analogous to schizophrenia's symptoms, along with increased D2S/D2L expression ratio and decreased expression of NR1, NR2A and NR2B NMDA receptor subunits in the PFC. 28314129 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease RGD The selective loss of NR2B protein and subsequent synaptic dysfunction weakens plPFC function during development and may underlie early cognitive impairments in SCZ models and patients. 28628228 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE The selective loss of NR2B protein and subsequent synaptic dysfunction weakens plPFC function during development and may underlie early cognitive impairments in SCZ models and patients. 28628228 2017
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		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
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE GRIN2B variants were genotyped using standard TaqMan procedures in 175 European patients with schizophrenia deemed resistant or intolerant to treatment. 26876050 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE To further examine the association between mutations in GRIN2B and SCZ/ASD development, a larger sample size and functional experiments are needed. 27616045 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE In this study, we investigated whether single nucleotide polymorphisms (SNPs) in GRIN2B were associated with schizophrenia. 27453061 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR) gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), developmental delay, epilepsy, and schizophrenia. 27818011 2016
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 GeneticVariation disease UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 CausalMutation disease CLINVAR Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 27572814 2016
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 GeneticVariation disease UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 CausalMutation disease CLINVAR Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 27572814 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE In this study, we performed a case-control study to identify polymorphisms of the GRIN2B gene that may confer susceptibility to SZ in the Han Chinese population. 26020650 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE Especially, GluN2B, a subunit of NMDA receptors, associated trafficking complex is altered in the prefrontal cortex of schizophrenia. 26421900 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE These findings suggest that GRIN2B may be associated with schizophrenia and interaction effects of the polymorphisms in hsa-miR-219, CAKM2G, GRIN2B and GRIN3A may confer susceptibility to schizophrenia in the Chinese Han population. 26257337 2015
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		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
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 GeneticVariation disease UNIPROT GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827 2014