| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.840 | CausalMutation | CLINVAR | ||||||
|
G | 0.840 | CausalMutation | CLINVAR | ||||||
|
G | 0.820 | CausalMutation | CLINVAR | The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. | 25759925 | 2015 |
|||
|
G | 0.820 | CausalMutation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 |
|||
|
G | 0.820 | CausalMutation | CLINVAR | Screening of patients with craniosynostosis: molecular strategy. | 12884424 | 2003 |
|||
|
G | 0.820 | CausalMutation | CLINVAR | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. | 7987400 | 1994 |
|||
|
C | 0.820 | CausalMutation | CLINVAR | ||||||
|
T | 0.820 | CausalMutation | CLINVAR | ||||||
|
C | 0.820 | CausalMutation | CLINVAR | ||||||
|
A | 0.820 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
G | 0.810 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.760 | CausalMutation | CLINVAR | ||||||
|
G | 0.720 | CausalMutation | CLINVAR | ||||||
|
C | 0.710 | CausalMutation | CLINVAR | Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. | 25867380 | 2015 |
|||
|
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 |
|||
|
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 |
|||
|
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 |
|||
|
C | 0.710 | CausalMutation | CLINVAR | Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. | 11390973 | 2001 |