Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO