Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 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: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 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: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 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: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135

2011
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 Biomarker GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 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: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GeneticVariation UNIPROT The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome. 12000365

2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 Biomarker GENOMICS_ENGLAND We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. 8696350

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GeneticVariation UNIPROT We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. 8696350

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.300 Biomarker GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003