FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.020 Biomarker group BEFREE However, the link between constitutive FGFR3 activation and malformation of the cortex has been difficult to elucidate. 16133544 2005
CUI: C0302142
Disease: Deformity
Deformity 		0.020 AlteredExpression group BEFREE These results together with our earlier observation that achondroplasia results from constitutive activation of the related receptor FGFR3, leads to the prediction that other malformation syndromes attributed to FGFRs, such as Pfeiffer syndrome and Thanatophoric dysplasia, also arise from constitutive receptor activation. 8755573 1996