Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 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 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Fibrillin-1 misfolding and disease. | 16677079 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity. | 16342915 | 2005 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. | 14586646 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. | 11700157 | 2001 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. | 10486319 | 1999 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. | 8863159 | 1996 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The solution structure of human epidermal growth factor. | 3495735 | 1987 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 |