FGF9, fibroblast growth factor 9, 2254

N. diseases: 153; N. variants: 2
Disease: Craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.020 GeneticVariation disease BEFREE We have demonstrated for the first time that mutations in FGF9 cause craniosynostosis in humans and confirm that FGF9 mutations cause multiple synostoses. 28730625 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.020 Biomarker disease BEFREE Interestingly, binding of both mutant receptors to FGF9 was notably enhanced and implicates FGF9 as a potential pathophysiological ligand for mutant FGFRs in mediating craniosynostosis. 14613973 2004