Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 Biomarker disease BEFREE SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine. 31372899 2020
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 Biomarker disease HPO