Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Pro250Arg (p.P250R)
(
ENST00000340107.9,
ENST00000412135.7,
ENST00000352904.6,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Pro250Arg (p.P250R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Muenke Syndrome
- Source Database
- DisGeNET
- Description
- Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
- Pubmed
- 11746040
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.564343069953285
- Year of publication
- 2001
Drugs