Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Generalized Epilepsy with Febrile Seizures Plus
0.330 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
Generalized Epilepsy with Febrile Seizures Plus
0.330 GeneticVariation disease BEFREE Mutations in three voltage-gated sodium channel genes, SCN1A, SCN2A, and SCN1B, and two GABAA receptor subunit genes, GABRG2 and GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+). 16525050 2006
Generalized Epilepsy with Febrile Seizures Plus
0.330 GeneticVariation disease BEFREE We have found a GABRD Glu177Ala variant which is heterozygously associated with generalized epilepsy with febrile seizures plus. 15115768 2004
Generalized Epilepsy with Febrile Seizures Plus
0.330 GeneticVariation disease ORPHANET