rs77543610, FGFR2

N. diseases: 28
Disease: Congenital Abnormality ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
0.010 GeneticVariation BEFREE A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. 18242159 2008