Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 MUTATION
FGFR3 MUTATION - Associated Disease
- osteogenesis imperfecta
- Source Database
- DisGeNET
- Description
- The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibroblast growth factor receptor type 3 (FGFR3) chondrodysplasias [27/112 (24%)].
- Pubmed
- 24863959
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- 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
- 0.00081432561624091
Drugs