Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
0.010 GeneticVariation disease BEFREE SHANK3 duplications have been identified in patients with hyperkinetic disorders and early-onset generalized tonic-clonic seizures. 30305163 2018