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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981

2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker GENOMICS_ENGLAND Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker GENOMICS_ENGLAND Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565

2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker GENOMICS_ENGLAND We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344

1995