Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels. | 26281765 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. | 24698609 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. | 19349279 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. | 19353630 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. | 17701892 | 2007 |
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G | 0.700 | CausalMutation | CLINVAR | Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. | 16905551 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. | 12203992 | 2002 |