Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 ×
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