Annotation Detail

Information
Associated Genes
ACTA2
Associated Variants
ACTA2 MUTATION
ACTA2 MUTATION
Associated Disease
Congenital aneurysm of ascending aorta
Source Database
DisGeNET
Description
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.
Pubmed
24020716
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Drugs