Disease: Brugada Syndrome 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 CausalMutation disease CLINVAR Sodium Channel β Subunits in Epilepsy: Location, Location, Location. 28331474 2019
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 Biomarker disease GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 CausalMutation disease CLINVAR β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 27277800 2016
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 Biomarker disease GENOMICS_ENGLAND Inherited progressive cardiac conduction disorders. 25426816 2015
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 Biomarker disease GENOMICS_ENGLAND Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 18464934 2008
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 CausalMutation disease CLINVAR Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 17020904 2007
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 CausalMutation disease CLINVAR Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 12011299 2002
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 CausalMutation disease CLINVAR Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 CausalMutation disease CLINVAR Arthroplasty of the temporomandibular joint. 5421039 1970
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 GeneticVariation disease CLINVAR
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		0.600 Biomarker disease CTD_human