Annotation Detail

Information
Associated Genes
ACTA2
Associated Variants
ACTA2 MUTATION
ACTA2 MUTATION
Associated Disease
Aortic aneurysm without mention of rupture NOS
Source Database
DisGeNET
Description
Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood.
Pubmed
26034244
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
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs