Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 GeneticVariation 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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 Biomarker CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 Biomarker CTD_human FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 Biomarker CTD_human FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.410 CausalMutation CLINVAR