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: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. 25652356 2015
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912 2015
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. 22219643 2011
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 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
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079 2006
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647 2006
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319 1999
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. 9254848 1997
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
dbSNP: rs1555399968
rs1555399968
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422 1973