Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 MUTATION
FGFR2 MUTATION - Associated Disease
- craniosynostosis
- Source Database
- DisGeNET
- Description
- Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor 2 (FGFR-2).
- Pubmed
- 25759925
- 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,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.160071164935964
Drugs