Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A MUTATION
CACNA1A MUTATION - Associated Disease
- Spinocerebellar Ataxia Type 6 (disorder)
- Source Database
- DisGeNET
- Description
- Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene.
- Pubmed
- 25266619
- Section of the abstract supporting the evidence
- BACKGROUND
- 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,GAD,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.455124799966376
Drugs