Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? | 21267002 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. | 21098638 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. | 17935258 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. | 16027248 | 2005 |