CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 GeneticVariation disease UNIPROT Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. 27165696 2016
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 GeneticVariation disease UNIPROT Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 27516456 2016
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 GeneticVariation disease UNIPROT Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 26164367 2015
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 CausalMutation disease CLINVAR Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 25557436 2015
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 CausalMutation disease CLINVAR Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 26309258 2015
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 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: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 CausalMutation disease CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457 2014
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 GeneticVariation disease CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457 2014
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 GeneticVariation disease UNIPROT Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497 2012
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 CausalMutation disease CLINVAR Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497 2012
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 GeneticVariation disease CLINVAR Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497 2012
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 Biomarker disease GENOMICS_ENGLAND Molecular basis of catecholaminergic polymorphic ventricular tachycardia. 19121813 2009
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.600 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005