FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Syringomyelia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519038
rs1057519038
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0039144
Disease:
Syringomyelia 		0.010 GeneticVariation BEFREE A novel FGFR2 mutation, Tyr281Cys, was found in familial Crouzon syndrome with Chiari I and syringomyelia. 12186468 2002