Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.120 GeneticVariation disease BEFREE Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.120 GeneticVariation disease BEFREE Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). 20308251 2010
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.120 Biomarker disease HPO