rs886040861, GRIN2D

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
0.800 GeneticVariation UNIPROT GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. 27616483 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
0.800 CausalMutation CLINVAR
Epileptic encephalopathy
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