Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.010 GeneticVariation BEFREE We identified two possibly pathogenic missense variants (p.Tyr790Phe and p.Thr140Ile) in sporadic patients (3.8%) showing typical EAF and no antecedent febrile seizures. 30977726 2019