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 CausalMutation disease CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462 1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease 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 		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 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 CausalMutation disease CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
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 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 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 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 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 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 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 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 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 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 GeneticVariation disease CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301 2002