Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. | 22113417 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. | 21358634 | 2011 |
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|
A | 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 | Aortic dissection in a young man with Loeys-Dietz syndrome. | 18455604 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. | 16791849 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Aneurysm syndromes caused by mutations in the TGF-beta receptor. | 16928994 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. | 15731757 | 2005 |