rs121918491, FGFR2

N. diseases: 15
Disease: Cutis Gyrata Syndrome of Beare And Stevenson ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304 2006
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432 2005
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. 7558045 1995
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 7773284 1995
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170 1994