CALM2, calmodulin 2, 805

N. diseases: 252; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		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: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 GeneticVariation disease UNIPROT Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 27516456 2016
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 GeneticVariation disease UNIPROT Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. 27165696 2016
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 GeneticVariation disease UNIPROT Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 26164367 2015
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 GeneticVariation disease UNIPROT Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 24917665 2014
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 Biomarker disease GENOMICS_ENGLAND Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 24917665 2014
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 GeneticVariation disease UNIPROT Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215 2013
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 CausalMutation disease CLINVAR
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 GeneticVariation disease CLINVAR
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 Biomarker disease CTD_human
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.400 GermlineCausalMutation disease ORPHANET Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 24917665 2014
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.400 GermlineCausalMutation disease ORPHANET Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215 2013
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.400 GeneticVariation disease CLINVAR
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.340 Biomarker 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) 		0.340 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) 		0.340 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) 		0.340 GeneticVariation disease ORPHANET We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P). 24917665 2014
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.340 GeneticVariation disease BEFREE We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P). 24917665 2014
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		0.310 Biomarker disease BEFREE This study evaluated differences in substance-specific consequence attribution by alcohol-marijuana use patterns (concurrent alcohol and marijuana [CAM; use of both substances, not at same time] and simultaneous [SAM; use of both, at same time]) as well as alcohol-only (AO). 31002291 2020
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Fluoxetine epigenetically alters the CaMKIIα promoter in nucleus accumbens to regulate ΔFosB binding and antidepressant effects. 24240473 2014
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Fluoxetine epigenetically alters the CaMKIIα promoter in nucleus accumbens to regulate ΔFosB binding and antidepressant effects. 24240473 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 Biomarker disease PSYGENET Derivation of neural stem cells from an animal model of psychiatric disease. 24193728 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Tributyltin exposure influences predatory behavior, neurotransmitter content and receptor expression in Sebastiscus marmoratus. 23314275 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET βCaMKII in lateral habenula mediates core symptoms of depression. 23990563 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET βCaMKII in lateral habenula mediates core symptoms of depression. 23990563 2013