Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 25691416

2015
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2? 26227324

2015
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation 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
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis. 23578275

2014
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation 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
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). 24773605

2014
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 GeneticVariation 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
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. 23580742

2013
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. 23690510

2013
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. 21685391

2011
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 21910241

2011
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. 19074970

2009
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 18250309

2008
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612

2005
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 CausalMutation CLINVAR Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078

2004