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 Genotype impacts survival in Marfan syndrome. 26787436 2016
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation 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 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 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 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 The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation 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: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2015
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation 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: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation 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 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 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 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642 2013
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 24039054 2013
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365 2013
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642 2013
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
dbSNP: rs387906623
rs387906623
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647 2012
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 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 21594993 2011
dbSNP: rs113001196
rs113001196
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322 2011