Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1506
Gene Symbol: CTRL
CTRL
0.010 GeneticVariation disease BEFREE A third patient from a consanguineous Sudanese family diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) had a homozygous splice site mutation (c.331+1G>A) in TECRL Analysis of intracellular calcium ([Ca<sup>2+</sup>]<sub>i</sub>) dynamics in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) generated from this individual (TECRL<sub>H</sub><sub>om</sub>-hiPSCs), his heterozygous but clinically asymptomatic father (TECRL<sub>H</sub><sub>et</sub>-hiPSCs), and a healthy individual (CTRL-hiPSCs) from the same Sudanese family, revealed smaller [Ca<sup>2+</sup>]<sub>i</sub> transient amplitudes as well as elevated diastolic [Ca<sup>2+</sup>]<sub>i</sub> in TECRL<sub>H</sub><sub>om</sub>-hiPSC-CMs compared with CTRL-hiPSC-CMs. 27861123 2016