Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A MUTATION
CACNA1A MUTATION - Associated Disease
- Spinocerebellar Ataxia Type 6 (disorder)
- Source Database
- DisGeNET
- Description
- One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A gene mutations were identified.
- Pubmed
- 24898624
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.455124799966376
Drugs