Disease: Epileptic encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040861
rs886040861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C0543888
Disease:
Epileptic encephalopathy 		0.010 GeneticVariation 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