FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Unicoronal synostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		0.030 Biomarker disease BEFREE Sexual dimorphism with male preponderance in FGFR3 unicoronal synostosis was detected. 18317141 2008
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		0.030 GeneticVariation disease BEFREE This finding suggested that all patients with a diagnosis of unicoronal synostosis be screened for the FGFR3 mutation. 11743367 2001
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		0.030 GeneticVariation disease BEFREE Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. 9580776 1998