Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. | 16220557 | 2005 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. | 12938084 | 2003 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1. | 11829507 | 2002 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1. | 7896820 | 1995 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. | 8504310 | 1993 |