Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA MUTATION
PIK3CA MUTATION
Associated Disease
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
Source Database
DisGeNET
Description
Our findings warrant further investigation of the role of different types of PIK3CA mutations and their predictive impact on distinct subtypes of EECs.
Pubmed
25701704
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Drugs