Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.700 Biomarker disease GENOMICS_ENGLAND A multicentre study of patients with Timothy syndrome. 28371864 2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.700 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.700 Biomarker disease GENOMICS_ENGLAND 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
0.700 Biomarker disease GENOMICS_ENGLAND Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. 24728418 2014
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.700 CausalMutation disease CLINVAR Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.700 GeneticVariation disease UNIPROT Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.700 Biomarker disease CTD_human