Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.700 Biomarker GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350

1996