Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
FGFR2 MUTATION
FGFR2 MUTATION
Associated Disease
Apert syndrome
Source Database
DisGeNET
Description
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
Pubmed
25867380
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,MGD,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.454657861092336
Drugs