FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967 1986
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967 1986
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763 1996
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763 1996
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093 1996
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093 1996
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 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
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation 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
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868 2003
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868 2003
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350 2003
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350 2003
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795 2004
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795 2004
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Genetic basis of thoracic aortic aneurysms and aortic dissections. 16273536 2005
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Genetic basis of thoracic aortic aneurysms and aortic dissections. 16273536 2005
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Molecular pathology of Shprintzen-Goldberg syndrome. 16333834 2006
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Molecular pathology of Shprintzen-Goldberg syndrome. 16333834 2006
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647 2006
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647 2006
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931 2006
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931 2006
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 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: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004 2010