rs886040861, GRIN2D

N. diseases: 2
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 ×
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