Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE A point mutation in the gene encoding Cav1.2 (CACNA1C) causes Tymothy syndrome (TS), a multisystem disorder featuring cardiac arrhythmias, autism spectrum disorder (ASD) and adrenal gland dysfunction. 30629744 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. 30345660 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE Perturbations in the CACNA1C-encoded L-type calcium channel α-subunit have been linked recently to heritable arrhythmia syndromes, including Timothy syndrome, Brugada syndrome, early repolarization syndrome, and long QT syndrome. 27218670 2016
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE Twelve of 44 SUNDS victims (SCN5A, SCN1B, CACNB2, CACNA1C, AKAP9, KCNQ1, KCNH2, KCNJ5, GATA4, NUP155, ABCC9) and 6 of 17 patients with BrS (SCN5A, CACNA1C; P>.05) carried rare variants in primary arrhythmia-susceptibility genes. 27707468 2016
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE In this study, we identified a novel mechanism of VT resulted from enhanced repolarization dispersion which is a key factor for arrhythmias in the CACNA1C G1911R mutation using multi-scale computational models of the human ventricle. 27502440 2016
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE No significant enrichment was observed for any other arrhythmia-susceptibility gene, including SCN10A and CACNA1C. 25650408 2015
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE Even without typical phenotypes of Timothy syndrome, CACNA1C mutations may cause QT prolongation and/or fatal arrhythmia attacks. 24728418 2014
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 GeneticVariation phenotype BEFREE We identified a variant in CACNA1C in a male child of Filipino descent with arrhythmias and extracardiac features by candidate gene sequencing and performed functional expression studies to electrophysiologically characterize the effects of the variant on CaV1.2 channels. 25184293 2014
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.380 Biomarker phenotype CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004