Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease BEFREE We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease 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 		0.970 GeneticVariation disease CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301 2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease 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 		0.970 GeneticVariation disease BEFREE The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. 11424131 2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease 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 		0.970 GeneticVariation disease BEFREE Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 18247426 2008
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease 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 		0.970 GeneticVariation disease BEFREE Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. 12900900 2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease CLINVAR A novel mutation in FGFR2. 25425289 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease 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 		0.970 GeneticVariation disease 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 		0.970 Biomarker disease 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 		0.970 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 Biomarker disease MGD p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. 22585574 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 Biomarker disease 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 		0.970 Biomarker disease CTD_human
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 Biomarker disease 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 		0.970 Biomarker disease 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 		0.970 Biomarker disease BEFREE 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 		0.970 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.300 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. 7558045 1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 7773284 1995