Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
0.440 Biomarker disease GENOMICS_ENGLAND Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders. 28051072 2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
0.440 Biomarker disease GENOMICS_ENGLAND Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
0.440 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013