Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A MUTATION
CACNA1A MUTATION - Associated Disease
- Spinocerebellar Ataxia Type 6 (disorder)
- Source Database
- DisGeNET
- Description
- Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel Ca(V)2.1 (P/Q-type), have been associated with three neurological phenotypes: familial and sporadic hemiplegic migraine type 1 (FHM1, SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6).
- Pubmed
- 24836863
- 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,GAD,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.455124799966376
Drugs