Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. | 23099432 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. | 19409525 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. | 17994018 | 2007 |