Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker GENOMICS_ENGLAND A multicentre study of patients with Timothy syndrome. 28371864

2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308

2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker GENOMICS_ENGLAND 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
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker GENOMICS_ENGLAND This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. 24728418

2014
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker GENOMICS_ENGLAND Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078

2004