Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.700 Biomarker disease GENOMICS_ENGLAND GRIN2D variants in three cases of developmental and epileptic encephalopathy. 30280376 2018
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.700 GeneticVariation disease UNIPROT GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. 27616483 2016
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.700 Biomarker disease CTD_human
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.700 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND GRIN2D variants in three cases of developmental and epileptic encephalopathy. 30280376 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.340 Biomarker disease BEFREE Differential effect of NMDA receptor GluN2C and GluN2D subunit ablation on behavior and channel blocker-induced schizophrenia phenotypes. 31110197 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.340 GeneticVariation disease BEFREE Furthermore, the frameshift mutation in GRIN2C and splice site mutation in GRIN2D were genotyped in an independent sample set comprising 1877 SCZ cases, 382 ASD cases, and 2040 controls. 29317596 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.340 GeneticVariation disease BEFREE The aim of this study was to determine (1) whether SNP variation in the genes (GRIN1, GRIN2A, GRIN2B, GRIN2C, and GRIN2D) encoding the NMDA receptor were associated with schizophrenia; (2) whether GRIN gene variation in the offspring interacted with maternal herpes simplex virus-2 (HSV-2) seropositivity during pregnancy influencing the risk of schizophrenia later in life. 21919190 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.340 Biomarker disease CTD_human Gene expression of NMDA receptor subunits in the cerebellum of elderly patients with schizophrenia. 19856012 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.340 Biomarker disease BEFREE We focused on the N-methyl-D-aspartate receptor subunit NR2D gene in the case-control study of schizophrenia. 16094258 2005
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.300 Biomarker phenotype CTD_human NR2D-containing NMDA receptors mediate tissue plasminogen activator-promoted neuronal excitotoxicity. 19911010 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Here we report six novel GRIN2D variants and one previously-described disease-associated GRIN2D variant in two patients with developmental and epileptic encephalopathy. 31504254 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. 30280376 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Here, we report a de novo recurrent heterozygous missense mutation-c.1999G>A (p.Val667Ile)-in a NMDAR gene previously unrecognized to harbor disease-causing mutations, GRIN2D, identified by exome and candidate panel sequencing in two unrelated children with epileptic encephalopathy. 27616483 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.110 Biomarker disease BEFREE Notably, in vivo treatment with a well-characterized GluN2D antagonist ameliorates the severity of established dyskinesia in L-DOPA-treated animals. 30261285 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. 30280376 2018
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.100 GeneticVariation disease GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265 2017
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO