Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. 19161152 2009
Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. 16835936 2006
Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. 12161601 2002