FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518881
rs1057518881
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303 2017
dbSNP: rs1057518881
rs1057518881
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
dbSNP: rs1057518881
rs1057518881
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. 24501682 2013
dbSNP: rs1057518881
rs1057518881
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279 2009
dbSNP: rs1057518881
rs1057518881
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation 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
dbSNP: rs1057518881
rs1057518881
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551 2006
dbSNP: rs1057518881
rs1057518881
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647 2006