Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
0.010 GeneticVariation disease BEFREE The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 23804563 2013