CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Disease: LONG QT SYNDROME 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 GeneticVariation disease UNIPROT Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 26969752 2016
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 GeneticVariation disease UNIPROT Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. 27165696 2016
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 CausalMutation disease CLINVAR Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 26309258 2015
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 CausalMutation disease CLINVAR Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 25557436 2015
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 GeneticVariation disease UNIPROT Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 26164367 2015
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 CausalMutation disease CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457 2014
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 GeneticVariation disease UNIPROT A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 24076290 2014
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 CausalMutation disease 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
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 GeneticVariation disease UNIPROT Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215 2013
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 CausalMutation disease CLINVAR Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497 2012
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular basis of catecholaminergic polymorphic ventricular tachycardia. 19121813 2009
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 GeneticVariation disease CLINVAR
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 Biomarker disease CTD_human