FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Brachycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker disease CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker disease CTD_human FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker disease CTD_human FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker disease HPO