Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C MUTATION
CACNA1C MUTATION - Associated Disease
- Timothy syndrome
- Source Database
- DisGeNET
- Description
- 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).
- Pubmed
- 25184293
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.566243163057847
Drugs