Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 Biomarker disease BEFREE These data further bolster the conclusion that CACNA1C is a bona fide, definite evidence long-QT syndrome susceptibility gene. 31430211 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease BEFREE Gain-of-function variants in the CACNA1C-encoded L-type calcium channel (LTCC, Ca<sub>v</sub>1.2) cause type 8 long QT syndrome (LQT8). 30172029 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease BEFREE Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site. 31408100 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease BEFREE Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS. 27390944 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 25691416 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2? 26227324 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease BEFREE We conclude that genotype-negative LQTS patients should be investigated for mutations in CACNA1C, as a gain-of-function in Cav1.2 is likely to cause LQTS and only specific and rare mutations, i.e. in exon 8, cause the multi-systemic TS. 25633834 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease BEFREE Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death. 26253506 2015
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis. 23578275 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. 23979604 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). 24773605 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 Biomarker disease BEFREE CACNA1C gene screening was performed in 278 probands negative for LQTS-related gene mutations. 24728418 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease BEFREE Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS). 25184293 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease CLINVAR Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. 23677916 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. 23580742 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. 23690510 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 GeneticVariation disease BEFREE Subsequent mutational analysis identified 3 additional variants within CACNA1C in our cohort of 102 unrelated cases of genotype-negative/phenotype-positive LQTS. 23677916 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 Biomarker disease BEFREE In tandem, the role of 9 genes for monogenic long QT syndrome (LQT1-9) was assessed, yielding evidence of association with CACNA1C (LQT8; p = 3.09 × 10(-4); OR = 1.18, 95% CI:1.079, 1.290). 21658281 2011
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. 21685391 2011
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 21910241 2011
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. 19074970 2009