Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
FGFR2 MUTATION
FGFR2 MUTATION
Associated Disease
Cleft palate with cleft lip
Source Database
DisGeNET
Description
TGFβ, FGA, PDGFc, PDGFRa, FGF, FGFR1, FGFR2 growth factors as well as MMP and TIMP2 proteolytic enzymes are involved in the genesis of CLP (P>L).
Pubmed
25176321
Section of the abstract supporting the evidence
RESULTS
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
0.000542883744160607
Drugs