Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 805
Gene Symbol: CALM2
CALM2
0.060 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
Entrez Id: 805
Gene Symbol: CALM2
CALM2
0.060 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
Entrez Id: 805
Gene Symbol: CALM2
CALM2
0.060 GeneticVariation disease BEFREE We generated LQT15-hiPSCs from a 12-year-old boy with LQTS carrying a CALM2-N98S mutation and differentiated these hiPSCs into cardiomyocytes (LQT15-hiPSC-CMs). 28335032 2017
Entrez Id: 805
Gene Symbol: CALM2
CALM2
0.060 GeneticVariation disease BEFREE A mutation (F142L) affecting only one of the six CALM alleles is associated with long QT syndrome (LQTS) characterized by recurrent cardiac arrests. 28158429 2017
Entrez Id: 805
Gene Symbol: CALM2
CALM2
0.060 GeneticVariation disease BEFREE We generated and characterized the functional properties of induced pluripotent stem cell-derived cardiomyocytes from a patient with D130G-CALM2-mediated LQTS, thus creating a platform with which to devise and test novel therapeutic strategies. 27765793 2017
Entrez Id: 805
Gene Symbol: CALM2
CALM2
0.060 GeneticVariation disease BEFREE Calmodulin (CaM) is encoded by 3 genes, CALM1, CALM2, and CALM3, all of which harbor pathogenic variants linked to long QT syndrome (LQTS) with early and severe expressivity. 26969752 2016