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 Three missense variants of ST3GAL3 are known to be responsible for a congenital disorder of glycosylation determining a neurodevelopmental disorder (intellectual disability/epileptic encephalopathy). 31584066 2020
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO