Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.010 GeneticVariation 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