Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation. 28217227 2017
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. 26179811 2015
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts. 25772295 2015
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 25253298 2014
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation. 22155598 2012
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. 22155597 2012
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
0.300 Biomarker phenotype CLINGEN Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 18464934 2008