Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A MUTATION
CACNA1A MUTATION - Associated Disease
- Episodic ataxia type 2 (disorder)
- Source Database
- DisGeNET
- Description
- Episodic ataxia type-2 (EA2) is a dominantly inherited human neurological disorder caused by loss of function mutations in the CACNA1A gene, which encodes the CaV2.1 subunit of P/Q-type voltage-gated calcium channels.
- Pubmed
- 24768804
- 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,CTD_human,GAD,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.575124799966376
Drugs