CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 GeneticVariation disease BEFREE Mutations in human genes CALM1, CALM2, and CALM3 have been associated with life-threatening heart disorders, such as long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia. 30937913 2019
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 GeneticVariation disease BEFREE The two prevalent phenotypes are long QT syndrome (LQTS; CALM-LQTS, n = 36, 49%) and catecholaminergic polymorphic ventricular tachycardia (CPVT; CALM-CPVT, n = 21, 28%). 31170290 2019
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 GeneticVariation disease BEFREE To that end, we have designed a CaM protein (GSH-M37Q; dubbed as therapeutic CaM or T-CaM) that exhibited a slowed N-terminal Ca dissociation rate and prolonged RyR2 refractoriness in permeabilized myocytes derived from CPVT mice carrying the CASQ2 mutation R33Q. 29720499 2018
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 GeneticVariation disease BEFREE We discovered a novel CPVT mutation in the CALM3 gene that shares functional characteristics with established CPVT-associated mutations in CALM1. 27516456 2016
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 GermlineCausalMutation disease ORPHANET Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 23040497 2012
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 Biomarker disease GENOMICS_ENGLAND Molecular basis of catecholaminergic polymorphic ventricular tachycardia. 19121813 2009
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 Biomarker disease CTD_human
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.740 GeneticVariation disease CLINVAR
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
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