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: 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 CausalMutation CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450

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 GeneticVariation BEFREE Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes. 25706251

2015
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 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015
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 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
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 CLINVAR A novel mutation in FGFR2. 25425289

2015
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 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936

2014
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 CLINVAR Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach. 23754559

2013
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 CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
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 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
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 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
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 MGD p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. 22585574

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 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 GeneticVariation BEFREE Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 18247426

2008
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 BEFREE This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. 17449949

2007
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 CausalMutation CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304

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 CausalMutation CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432

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 BEFREE Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. 12900900

2003
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 CausalMutation CLINVAR Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. 12884434

2003
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 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424

2003
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 CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301

2002