Disease: Cardiac Arrhythmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.320 Biomarker phenotype GENOMICS_ENGLAND Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 22457051 2012
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.320 AlteredExpression phenotype BEFREE These findings provide the first molecular and functional evidence implicating novel KCND3 gain-of-function mutations in the pathogenesis and phenotypic expression of BrS, with the potential for a lethal arrhythmia being precipitated by a genetically enhanced I(to) current gradient within the right ventricle where KCND3 expression is the highest. 21349352 2011
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.320 GeneticVariation phenotype BEFREE This information should facilitate the systematic screening of KCND2 and KCND3 exons for mutations in (inherited) arrhythmia syndromes, such as LQTS and Brugada. 10942109 2000