rs267607277, CALM1

N. diseases: 6
Disease: LONG QT SYNDROME 14 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LONG QT SYNDROME 14
CUI: C4015671
Disease: LONG QT SYNDROME 14
0.700 CausalMutation CLINVAR Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 25557436 2015
LONG QT SYNDROME 14
CUI: C4015671
Disease: LONG QT SYNDROME 14
0.700 CausalMutation CLINVAR Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 26309258 2015
LONG QT SYNDROME 14
CUI: C4015671
Disease: LONG QT SYNDROME 14
0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216 2014
LONG QT SYNDROME 14
CUI: C4015671
Disease: LONG QT SYNDROME 14
0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457 2014
LONG QT SYNDROME 14
CUI: C4015671
Disease: LONG QT SYNDROME 14
0.700 CausalMutation CLINVAR Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497 2012