Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.430 Biomarker disease CTD_human Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. 25362483 2014
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.430 GeneticVariation disease BEFREE New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures. 21040232 2011
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.430 GeneticVariation disease LHGDN Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. 12011299 2002
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.430 GeneticVariation disease BEFREE Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. 12011299 2002
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.430 GeneticVariation disease LHGDN Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 12486163 2002
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.430 Biomarker disease HPO