DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Multiple congenital anomalies ×

Gene: FBN1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.100

CausalMutation

CLINVAR

Genotype impacts survival in Marfan syndrome.

26787436

2016

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.100

GeneticVariation

CLINVAR

Genotype impacts survival in Marfan syndrome.

26787436

2016

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.100

GeneticVariation

CLINVAR

FBN1 contributing to familial congenital diaphragmatic hernia.

25736269

2015

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.100

GeneticVariation

CLINVAR

The revised ghent nosology; reclassifying isolated ectopia lentis.

24635535

2015

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.100

CausalMutation

CLINVAR

FBN1 contributing to familial congenital diaphragmatic hernia.

25736269

2015

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.100

CausalMutation

CLINVAR

The revised ghent nosology; reclassifying isolated ectopia lentis.

24635535

2015

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.100

GeneticVariation

CLINVAR

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

21683322

2011

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

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