Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A MUTATION
CACNA1A MUTATION - Associated Disease
- Spinocerebellar Ataxia Type 6 (disorder)
- Source Database
- DisGeNET
- Description
- To describe a three generations family in which a spectrum of different phenotypes, ranging from SCA6 (proband), to EA2 (proband's mother) to FHM1 (proband's mother and proband's aunt) was found.
- Pubmed
- 20682717
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.455124799966376
- Year of publication
- 2015
Drugs