rs1057519043, FGFR2

N. diseases: 4
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 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
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 GeneticVariation 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 GeneticVariation CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301 2002
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.700 GeneticVariation CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174 1996