| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. | 9254848 | 1997 |
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0.810 | GeneticVariation | UNIPROT | Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. | 8909500 | 1996 |
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|
0.810 | GeneticVariation | UNIPROT | A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. | 7738200 | 1995 |
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|
0.810 | GeneticVariation | UNIPROT | A new missense mutation of fibrillin in a patient with Marfan syndrome. | 8071963 | 1994 |
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|
0.810 | GeneticVariation | UNIPROT | Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. | 8004112 | 1994 |
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|
0.810 | GeneticVariation | UNIPROT | A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. | 7870075 | 1994 |
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|
0.810 | GeneticVariation | UNIPROT | Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. | 7951214 | 1994 |
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|
0.810 | GeneticVariation | UNIPROT | Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. | 8406497 | 1993 |
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|
0.810 | GeneticVariation | UNIPROT | Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. | 8281141 | 1993 |
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|
T | 0.810 | GeneticVariation | CLINVAR |