×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
Genotype impacts survival in Marfan syndrome.
26787436
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
Genotype impacts survival in Marfan syndrome.
26787436
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
FBN1 contributing to familial congenital diaphragmatic hernia.
25736269
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
FBN1 contributing to familial congenital diaphragmatic hernia.
25736269
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
The revised ghent nosology; reclassifying isolated ectopia lentis.
24635535
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
25979247
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
The revised ghent nosology; reclassifying isolated ectopia lentis.
24635535
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
25101912
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
25979247
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
25101912
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
24665001
2014
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
24665001
2014
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
23897642
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
23278365
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
23278365
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
24039054
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
24039054
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
23897642
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
23133647
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
CLINVAR
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
23133647
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
GeneticVariation
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
CausalMutation
CLINVAR
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
21594993
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Overgrowth
0.100
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