Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.700 | CausalMutation | CLINVAR | FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. | 28901406 | 2017 |
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C | 0.700 | CausalMutation | CLINVAR | FGFR2 mutation in 46,XY sex reversal with craniosynostosis. | 26362256 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. | 25245177 | 2014 |
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C | 0.700 | CausalMutation | CLINVAR | Non surgical treatment of Crouzon syndrome. | 25209230 | 2014 |
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C | 0.700 | CausalMutation | CLINVAR | The molecular and cellular basis of Apert syndrome. | 25343114 | 2013 |
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C | 0.700 | CausalMutation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 |
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C | 0.700 | CausalMutation | CLINVAR | Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. | 22387015 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. | 19610084 | 2009 |
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C | 0.700 | CausalMutation | 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 |
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C | 0.700 | CausalMutation | CLINVAR | Pfeiffer syndrome. | 16740155 | 2006 |
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C | 0.700 | CausalMutation | CLINVAR | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 |
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C | 0.700 | CausalMutation | CLINVAR | Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. | 15793702 | 2005 |
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C | 0.700 | CausalMutation | CLINVAR | Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. | 16061565 | 2005 |
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C | 0.700 | CausalMutation | CLINVAR | Limbal stem cell deficiency associated with LADD syndrome. | 15883293 | 2005 |
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C | 0.700 | CausalMutation | CLINVAR | Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. | 11781872 | 2002 |
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C | 0.700 | CausalMutation | CLINVAR | "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." | 11343323 | 2001 |
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C | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. | 10735635 | 2000 |
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C | 0.700 | CausalMutation | CLINVAR | Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. | 10712195 | 2000 |
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C | 0.700 | CausalMutation | CLINVAR | Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? | 10633130 | 2000 |
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C | 0.700 | CausalMutation | CLINVAR | Clinical variability in patients with Apert's syndrome. | 10067911 | 1999 |
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C | 0.700 | CausalMutation | CLINVAR | Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. | 9585583 | 1998 |
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C | 0.700 | CausalMutation | CLINVAR | Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. | 7573032 | 1995 |
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C | 0.700 | CausalMutation | CLINVAR | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. | 7987400 | 1994 |
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C | 0.700 | CausalMutation | CLINVAR | Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. | 8434615 | 1993 |
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C | 0.700 | CausalMutation | CLINVAR | Beare-Stevenson cutis gyrata syndrome. | 1519658 | 1992 |