Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
A | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. | 30675029 | 2019 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Aortic dilation, genetic testing, and associated diagnoses. | 26133393 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. | 26854089 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. | 25944730 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. | 20101697 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. | 15235019 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Crystal structure of a phosphorylated Smad2. Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling. | 11779503 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cooperative binding of Smad proteins to two adjacent DNA elements in the plasminogen activator inhibitor-1 promoter mediates transforming growth factor beta-induced smad-dependent transcriptional activation. | 10092624 | 1999 |