Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
FGFR2 MUTATION
FGFR2 MUTATION
Associated Disease
BENT BONE DYSPLASIA SYNDROME
Source Database
DisGeNET
Description
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.
Pubmed
24908667
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,CLINVAR,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.36027144187208
Drugs