TRDN, triadin, 10345

N. diseases: 49; N. variants: 20
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 		0.030 GeneticVariation phenotype BEFREE The purpose of this study was to characterize the pathogenetic mechanism underlying a case of severe pediatric malignant arrhythmia associated with a defect in the TRDN gene. 31437535 2020
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.030 GeneticVariation phenotype BEFREE Using an NGS panel including 42 genes involved in cardiac sudden death, 2 heterozygous pathogenic mutations (c.613C> T/p.Gln205* and c.22 + 29 A>G) were identified in the Triadin gene in 2 sibs who experienced early severe arrhythmias without evidence of CPVT diagnosis at first cardiac evaluation. 26200674 2015
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.030 Biomarker phenotype BEFREE Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. 22422768 2012