Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 AlteredExpression disease BEFREE Additionally, the downregulation of NR2B, p‑NR1 and p‑GluR1 in the miR‑34c agomir group demonstrated that miR‑34c may serve a negative role in cognitive function in epileptic seizures, by dysregulating NMDA and α-amino-3-hydroxy-5‑methyl‑4‑isoxazolepropionic acid receptors, which are associated with long‑term potentiation. 29344671 2018
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 Biomarker disease BEFREE Our results suggest that the anti-GluN2B and anti-GluD2 antibodies may be associated with myoclonic atonic epileptic seizures and chronic cerebellitis. 28246062 2017
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 GeneticVariation disease BEFREE Epilepsy and intellectual disability are associated with rare variants in the GluN2A and GluN2B (encoded by GRIN2A and GRIN2B) subunits of the N-methyl-D-aspartate receptor (NMDAR), a ligand-gated ion channel with essential roles in brain development and function. 27839871 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 GeneticVariation disease BEFREE In this report, we provide a detailed clinical description of a sporadic male patient with early-onset epilepsy and epileptic encephalopathy in whom we performed complete exome sequencing (WES) and identified a GRIN2B mutation. 27605359 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 Biomarker disease RGD Modification of ionotropic glutamate receptor-mediated processes in the rat hippocampus following repeated, brief seizures. 19154779 2009
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 Biomarker disease CTD_human Tonic facilitation of glutamate release by presynaptic NR2B-containing NMDA receptors is increased in the entorhinal cortex of chronically epileptic rats. 16407536 2006
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 Biomarker disease BEFREE We used coimmunoprecipitation and immunoblotting techniques to quantify and compare the numbers of coassembled PSD-95 with NR2B, PSD-95 with NR1, and NR2B with NR1 in the membrane proteins of brain tissues resected from four patients (aged 3.5, 6, 14, and 18 years) with medically intractable neocortical epilepsy associated with CD. 15030493 2004
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 GeneticVariation disease CLINVAR