CALM2, calmodulin 2, 805

N. diseases: 252; N. variants: 12
Disease: LONG QT SYNDROME 15 ×
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