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: 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: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 0.700 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462 1995