Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. | 28901406 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. | 28901406 | 2017 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | FGFR2 mutation in 46,XY sex reversal with craniosynostosis. | 26362256 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | FGFR2 mutation in 46,XY sex reversal with craniosynostosis. | 26362256 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. | 25245177 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Non surgical treatment of Crouzon syndrome. | 25209230 | 2014 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. | 25245177 | 2014 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Non surgical treatment of Crouzon syndrome. | 25209230 | 2014 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | The molecular and cellular basis of Apert syndrome. | 25343114 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | The molecular and cellular basis of Apert syndrome. | 25343114 | 2013 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. | 22387015 | 2012 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. | 22387015 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. | 19610084 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. | 18726952 | 2009 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. | 18726952 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. | 19610084 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Pfeiffer syndrome. | 16740155 | 2006 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Pfeiffer syndrome. | 16740155 | 2006 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. | 15793702 | 2005 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Limbal stem cell deficiency associated with LADD syndrome. | 15883293 | 2005 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Limbal stem cell deficiency associated with LADD syndrome. | 15883293 | 2005 |