Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 MUTATION
FGFR2 MUTATION - Associated Disease
- Disorder of skeletal system
- Source Database
- DisGeNET
- Description
- Analysis of the FGFR2-skeletal disorder bent bone dysplasia syndrome (BBDS) demonstrates that FGFR2, in addition to its canonical signaling activities at the plasma membrane, regulates bone formation from within the nucleolus.
- Pubmed
- 24908667
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs