Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. | 25900864 | 2015 |
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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 | 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 | Fibrillin-1 misfolding and disease. | 16677079 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. | 15161917 | 2004 |
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|
A | 0.700 | CausalMutation | CLINVAR | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 |