CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Disease: Cardiac Arrhythmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.050 Biomarker phenotype BEFREE We established the International Calmodulinopathy Registry (ICalmR) to understand the natural history, clinical features, and response to therapy of patients with a CALM-mediated arrhythmia syndrome. 31170290 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.050 GeneticVariation phenotype BEFREE The life-threatening group of irregular cardiac rhythmic disorders also known as Cardiac Arrhythmias (CA) are caused by mutations in highly conserved Calmodulin (CALM/CaM) genes. 29932249 2018
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.050 Biomarker phenotype BEFREE Some genetic diagnoses have immediate implications for treatment: CALM1 with life-threatening arrhythmias, and TAZ with good cardiac prognosis. 30384889 2018
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.050 GeneticVariation phenotype BEFREE The clinical and genetic features of 2 congenital arrhythmia cases associated with 2 novel CaM gene mutations were ascertained. 27374306 2016
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.050 Biomarker phenotype BEFREE Seven infants with potentially lethal arrhythmias at age < 1 year (5 males, age of onset 44.1 ± 72.1 days) were genetically analyzed for KCNQ1, KCNH2, KCNE1-5, KCNJ2, SCN5A, GJA5, and CALM1 by using denaturing high-performance liquid chromatography and direct sequencing. 24112685 2014