Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. | 22752479 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. | 22302747 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Analysis of ACTA2 in European Moyamoya disease patients. | 20970362 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. | 20734336 | 2010 |
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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 |