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: 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: 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: 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: rs121913478
rs121913478
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		C 0.810 CausalMutation CLINVAR