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: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		0.410 Biomarker CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		0.410 GeneticVariation BEFREE The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. 12186468

2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		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: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		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: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		0.410 Biomarker HPO