rs137854480, FBN1

N. diseases: 11
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843 2009
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. 18079676 2007
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Ectopia lentis phenotypes and the FBN1 gene. 15054843 2004
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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