Disease: Generalized Epilepsy With Febrile Seizures Plus, 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 CausalMutation disease CLINVAR Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain. 25253744 2014
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 Biomarker disease GENOMICS_ENGLAND Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. 23895530 2013
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 GeneticVariation disease CLINVAR Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel. 23149731 2012
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 CausalMutation disease CLINVAR Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents. 21115638 2011
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 GeneticVariation disease CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393 2009
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 CausalMutation disease CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393 2009
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 GeneticVariation disease UNIPROT A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 19763161 2009
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 GeneticVariation disease CLINVAR A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 19557861 2009
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 CausalMutation disease CLINVAR Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation. 18599537 2008
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 GeneticVariation disease CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132 2007
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 CausalMutation disease CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132 2007
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 GeneticVariation disease CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 CausalMutation disease CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 14985375 2004
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 CausalMutation disease CLINVAR Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells. 374104 1979
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 Biomarker disease CTD_human
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 Biomarker disease GENOMICS_ENGLAND