FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Scaphycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 GeneticVariation disease BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2010
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 Biomarker disease CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 Biomarker disease CTD_human FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 Biomarker disease CTD_human FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 CausalMutation disease CLINVAR