Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		0.300 Biomarker phenotype CLINGEN Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. 19429829 2009
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		0.300 Biomarker phenotype CLINGEN Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 20817017 2010
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		0.300 Biomarker phenotype CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		0.300 Biomarker phenotype CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype CLINGEN Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 20817017 2010
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype 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 phenotype CLINGEN Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype 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: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype CLINGEN Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 19358333 2009
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		0.300 Biomarker phenotype CLINGEN GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. 19666841 2009
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		0.300 Biomarker phenotype CLINGEN Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 17967977 2007
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		0.300 Biomarker phenotype CLINGEN Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome. 18762705 2008
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		0.300 Biomarker phenotype 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: 10021
Gene Symbol: HCN4
HCN4 		0.300 Biomarker phenotype 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 phenotype CLINGEN Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function. 27553229 2016
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		0.300 Biomarker phenotype CLINGEN Role of HCN4 channel in preventing ventricular arrhythmia. 19165230 2009
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker phenotype CLINGEN Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. 22284586 2012
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker phenotype CLINGEN Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function. 26016905 2015
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker phenotype 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: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker phenotype 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 phenotype CLINGEN Cloning and expression of the human kv4.3 potassium channel. 10200233 1999
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker phenotype CLINGEN Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. 20558321 2010
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker phenotype CLINGEN Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. 11984590 2002
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker phenotype CLINGEN Role of ATP-sensitive K+ channels in cardiac arrhythmias. 24367007 2014