Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
FGFR2 MUTATION
FGFR2 MUTATION
Associated Disease
ACROCEPHALOPOLYSYNDACTYLY TYPE IV
Source Database
DisGeNET
Description
Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically associated with a small FMA.
Pubmed
25886248
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
5
Number of the sentence supporting the evidence
12
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00950046552281062
Drugs