Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy
0.300 GermlineCausalMutation disease ORPHANET Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014 2016