Annotation Detail

Information
Associated Genes
CACNA1A
Associated Variants
CACNA1A MUTATION
CACNA1A MUTATION
Associated Disease
cardiac arrest
Source Database
DisGeNET
Description
We analyzed 10 families with SCA (64 patients) from five different communities of Veracruz, a Mexican southeastern state, and identified 55 patients for SCA7 and 9 for SCA2, but none for SCA1, SCA3, or SCA6.
Pubmed
23368522
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00515739556952576
Drugs