Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease CLINGEN Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. 26179811 2015
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease CLINGEN Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts. 25772295 2015
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease CLINGEN SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation. 22155598 2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease CLINGEN Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 18464934 2008
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease CLINGEN SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 25253298 2014
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease 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
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.600 Biomarker disease CLINGEN Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation. 28217227 2017
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
0.300 Biomarker disease CLINGEN Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. 22284586 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
0.300 Biomarker disease CLINGEN Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 19358333 2009
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
0.300 Biomarker disease CLINGEN Cloning and expression of the human kv4.3 potassium channel. 10200233 1999
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
0.300 Biomarker disease CLINGEN GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. 19666841 2009
Entrez Id: 10021
Gene Symbol: HCN4
HCN4
0.300 Biomarker disease CLINGEN Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 15123648 2004
Entrez Id: 10021
Gene Symbol: HCN4
HCN4
0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
0.300 Biomarker disease CLINGEN Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 21349352 2011
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
0.300 Biomarker disease CLINGEN High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia. 25998140 2015
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B
0.300 Biomarker disease CLINGEN Embryonic type Na+ channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome. 27677334 2016
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B
0.300 Biomarker disease CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
0.300 Biomarker disease CLINGEN Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit. 10623591 2000
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1
0.300 Biomarker disease CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1
0.300 Biomarker disease CLINGEN Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 20817017 2010
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
0.300 Biomarker disease CLINGEN Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. 24352520 2014
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012