Annotation Detail

Information
Associated Genes
ACTA2
Associated Variants
ACTA2 MUTATION
ACTA2 MUTATION
Associated Disease
Aortic Aneurysm, Thoracic
Source Database
DisGeNET
Description
Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease.
Pubmed
24243736
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,CTD_human,GAD
DisGENET score for the Gene Disease association
0.125624334443566
Drugs