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 		0.120 GeneticVariation disease BEFREE This report focused that EEF1A2 mutations should be considered not only in patients with epileptic encephalopathy, but also in those with less severe epilepsy. 31477274 2020
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.120 GeneticVariation disease BEFREE This report provides clinical data on epileptic encephalopathy in patients with EEF1A2 mutation. 26682508 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.120 Biomarker disease HPO