FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Exophthalmos, bilateral ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2126063
Disease: Exophthalmos, bilateral
Exophthalmos, bilateral 		0.010 GeneticVariation phenotype BEFREE Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. 20163525 2010