Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
0.330 GeneticVariation disease BEFREE Generalized epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant condition often caused by mutations in SCN1A that usually first manifests as childhood simple febrile seizures but may progress to a variety of afebrile generalized seizure types. 28262406 2017
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
0.330 Biomarker disease CTD_human Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 25362483 2015
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
0.330 Biomarker disease CTD_human Common variants associated with general and MMR vaccine-related febrile seizures. 25344690 2015
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
0.330 Biomarker disease CTD_human Therapy for hyperthermia-induced seizures in Scn1a mutant rats. 21480876 2011
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
0.330 GeneticVariation disease BEFREE Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. 17565594 2007
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
0.330 GeneticVariation disease BEFREE Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. 16326807 2006