Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 MUTATION
FGFR3 MUTATION - Associated Disease
- craniosynostosis
- Source Database
- DisGeNET
- Description
- Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis.
- Pubmed
- 24864036
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0301275047575036
Drugs