| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. | 16222657 | 2005 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. | 8281141 | 1993 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. | 19941982 | 2010 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. | 15184297 | 2004 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. | 11826022 | 2002 | |||||
Marfan Syndrome
|
0.800 | 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 | |||||
Marfan Syndrome
|
0.800 | 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 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. | 12203992 | 2002 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. | 12203992 | 2002 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | The revised Ghent nosology for the Marfan syndrome. | 20591885 | 2010 | |||||
Marfan Syndrome
|
0.800 | 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 |