Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Knockdown of SCN3B in LQTS3/BrS iPSC-derived cardiomyocytes successfully unmasked the phenotype of BrS. 27677334 2016
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. 26179811 2015
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Genomic DNA extracted from the blood samples of 123 medico-legal autopsy-negative SUNDS cases and 104 sex-, age- and ethnic-matched controls from Southern China underwent comprehensive amino acid coding region mutational analysis for the BrS associated genes SCN5A, SCN1B, SCN2B, SCN3B, SCN4B, MOG1, and GPD1-L using PCR and direct sequencing. 24529773 2014
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 GeneticVariation disease BEFREE The Val110Ile mutation of SCN3B is a relatively common cause of SCN5A-negative BrS in Japan, which has a reduced sodium current because of the loss of cell surface expression of Nav1.5. 23257389 2013
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN The Val110Ile mutation of SCN3B is a relatively common cause of SCN5A-negative BrS in Japan, which has a reduced sodium current because of the loss of cell surface expression of Nav1.5. 23257389 2013
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 GeneticVariation disease BEFREE Previously BrS-associated mutations in KNCD3 and SCN3B were also present in ESP data. 22284586 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. 21051419 2011
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. 20226894 2010
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties. 19351516 2009
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 GeneticVariation disease BEFREE A missense mutation (L10P) was detected in exon 1 of SCN3B, the beta 3 subunit of the cardiac sodium channel, but not in any other gene known to be associated with Brugada syndrome or in 296 controls. 20031595 2009
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease MGD Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties. 19351516 2009
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN A missense mutation (L10P) was detected in exon 1 of SCN3B, the beta 3 subunit of the cardiac sodium channel, but not in any other gene known to be associated with Brugada syndrome or in 296 controls. 20031595 2009
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Modulation of Na(v)1.5 by beta1-- and beta3-subunit co-expression in mammalian cells. 15455233 2005
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN Distinct subcellular localization of different sodium channel alpha and beta subunits in single ventricular myocytes from mouse heart. 15007009 2004
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.530 Biomarker disease CLINGEN The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. 11744748 2001