| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.710 | CausalMutation | CLINVAR | Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. | 25867380 | 2015 |
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C | 0.710 | CausalMutation | CLINVAR | A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation. | 24489893 | 2014 |
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0.710 | GeneticVariation | BEFREE | We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). | 24656465 | 2014 |
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|
C | 0.710 | CausalMutation | CLINVAR | The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome. | 23495007 | 2013 |
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C | 0.710 | CausalMutation | CLINVAR | Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. | 22664175 | 2012 |
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C | 0.710 | CausalMutation | CLINVAR | Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. | 11390973 | 2001 |
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C | 0.710 | CausalMutation | CLINVAR | Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. | 9462761 | 1998 |
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C | 0.710 | CausalMutation | CLINVAR | Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. | 8651276 | 1996 |
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C | 0.710 | CausalMutation | CLINVAR | Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. | 7719344 | 1995 |