Annotation Detail

Information
Associated Genes
ACTA2
Associated Variants
ACTA2 MUTATION
ACTA2 MUTATION
Associated Disease
prune belly syndrome
Source Database
DisGeNET
Description
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.
Pubmed
24998021
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
0.000271441872080303
Drugs