Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C MUTATION
CACNA1C MUTATION - Associated Disease
- Timothy syndrome
- Source Database
- DisGeNET
- Description
- 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.
- Pubmed
- 24728418
- Section of the abstract supporting the evidence
- AIMS
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.566243163057847
Drugs