Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA MUTATION
PIK3CA MUTATION
Associated Disease
Overgrowth syndrome
Source Database
DisGeNET
Description
Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
Pubmed
24665065
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
0.000542883744160607
Drugs