| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.710 | CausalMutation | CLINVAR | Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. | 20489451 | 2010 |
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|
C | 0.710 | CausalMutation | CLINVAR | Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. | 17251833 | 2007 |
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|
C | 0.710 | CausalMutation | CLINVAR | P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation. | 15389579 | 2005 |
|||
|
C | 0.710 | CausalMutation | CLINVAR | Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. | 9700203 | 1998 |
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|
C | 0.710 | CausalMutation | CLINVAR | Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. | 9677057 | 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 | Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. | 7668257 | 1995 |
|||
|
C | 0.710 | CausalMutation | CLINVAR | Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. | 7719344 | 1995 |
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|
C | 0.710 | GeneticVariation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
C | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |