Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 MUTATION
FGFR2 MUTATION - Associated Disease
- Pfeiffer syndrome
- Source Database
- DisGeNET
- Description
- The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.
- Pubmed
- 25129254
- 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
- 8
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,GAD,MGD,UNIPROT
- DisGENET score for the Gene Disease association
- 0.331867497501413
Drugs