Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C MUTATION
CACNA1C MUTATION - Associated Disease
- Dysmorphic features
- Source Database
- DisGeNET
- Description
- Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2, cause Timothy syndrome (TS), a multi-systemic disorder with dysmorphic features, long-QT syndrome (LQTS) and autism spectrum disorders.
- Pubmed
- 25633834
- 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
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs