CALM3, calmodulin 3, 808

N. diseases: 215; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039070
Disease: Syncope
Syncope
0.110 GeneticVariation phenotype BEFREE We identified a novel CaM mutation-A103V-in CALM3 in 1 of 12 patients (8%), a female who experienced episodes of exertion-induced syncope since age 10, had normal QT interval, and displayed ventricular ectopy during stress testing consistent with CPVT. 27516456 2016
CUI: C0039070
Disease: Syncope
Syncope
0.110 Biomarker phenotype HPO