Annotation Detail

Information
Associated Genes
ACTA2
Associated Variants
ACTA2 MUTATION
ACTA2 MUTATION
Associated Disease
Aneurysm
Source Database
DisGeNET
Description
Genetic testing for ACTA2 mutations should be considered in all infants presenting with ductal aneurysms.
Pubmed
26034244
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Drugs