Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Marfan Syndrome
|
0.800 | 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 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. | 19533785 | 2009 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. | 19941982 | 2010 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | The revised Ghent nosology for the Marfan syndrome. | 20591885 | 2010 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. | 21542060 | 2011 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Evaluation of the adolescent or adult with some features of Marfan syndrome. | 22237449 | 2012 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. | 22772377 | 2013 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. | 24882528 | 2014 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). | 25173340 | 2014 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. | 27437668 | 2016 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | Genetic testing of 248 Chinese aortopathy patients using a panel assay. | 27611364 | 2016 | |||||
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 |