Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 GeneticVariation disease UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 CausalMutation disease CLINVAR Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 27572814 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 GeneticVariation disease UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 GeneticVariation disease UNIPROT Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276 2010
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 GeneticVariation disease CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.700 Biomarker disease CTD_human