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 Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304 2006
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 Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 18247426 2008
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 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 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 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 CausalMutation 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 CausalMutation disease CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease 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 		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 CausalMutation disease CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease 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 		0.970 GeneticVariation disease CLINVAR A novel mutation in FGFR2. 25425289 2015
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: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450 2016
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