Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. | 19720936 | 2009 |
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A | 0.700 | CausalMutation | CLINVAR | Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. | 19720936 | 2009 |
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|
C | 0.700 | GeneticVariation | CLINVAR | FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. | 18435798 | 2008 |
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A | 0.700 | CausalMutation | CLINVAR | FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. | 18435798 | 2008 |
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|
C | 0.700 | GeneticVariation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. | 17884807 | 2007 |
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|
C | 0.700 | GeneticVariation | CLINVAR | hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. | 17884807 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. | 17224687 | 2007 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. | 17224687 | 2007 |
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A | 0.700 | CausalMutation | CLINVAR | In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. | 16995940 | 2006 |
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C | 0.700 | GeneticVariation | CLINVAR | In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. | 16995940 | 2006 |
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C | 0.700 | GeneticVariation | CLINVAR | Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. | 9241263 | 1997 |
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|
A | 0.700 | CausalMutation | CLINVAR | Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. | 9241263 | 1997 |