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 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365 2013
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: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. 21594992 2011
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 20979188 2010
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792 2015
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: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The revised Ghent nosology for the Marfan syndrome. 20591885 2010
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: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2015
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: 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: 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: 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: 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: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912 2015
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001 2014
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: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
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: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 24039054 2013
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
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: 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
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647 2012