FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Cutis Gyrata Syndrome of Beare And Stevenson ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 GeneticVariation BEFREE Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 18247426 2008
dbSNP: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 GeneticVariation BEFREE The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. 17449949 2007
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 GeneticVariation UNIPROT Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. 12000365 2002
dbSNP: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 GeneticVariation UNIPROT Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. 12000365 2002
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 GeneticVariation UNIPROT Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
dbSNP: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		0.810 GeneticVariation UNIPROT Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 CausalMutation CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450 2016
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
dbSNP: rs121918491
rs121918491
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
dbSNP: rs1564919048
rs1564919048
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 GeneticVariation CLINVAR A novel mutation in FGFR2. 25425289 2015
dbSNP: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 0.700 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936 2014
dbSNP: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
dbSNP: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs1057519043
rs1057519043
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 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
dbSNP: rs1057519043
rs1057519043
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs121918491
rs121918491
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs121918491
rs121918491
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304 2006
dbSNP: rs121918491
rs121918491
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432 2005
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 CausalMutation CLINVAR Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. 12884434 2003
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
dbSNP: rs1057519043
rs1057519043
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		A 0.700 GeneticVariation CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301 2002