FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Deformity of limb ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.020 GeneticVariation group BEFREE Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 15282208 2004
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.020 AlteredExpression group BEFREE Ectopic expression of KGFR in the fibroblast lines correlated with the severity of limb abnormalities. 9973282 1999