Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. | 27437668 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Ectopia lentis as the presenting and primary feature in Marfan syndrome. | 21932315 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. | 19293843 | 2009 |
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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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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. | 10930463 | 2000 |