DisGeNET - a database of gene-disease associations

Marfan Syndrome, C0024796

Variant: rs140593 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

25173340

2014

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

7738200

1995

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

A new missense mutation of fibrillin in a patient with Marfan syndrome.

8071963

1994

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

9254848

1997

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.

7870075

1994

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

24882528

2014

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

11175294

2001

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

21784848

2011

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

19002209

2009

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

15161917

2004

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

10441597

1999

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.

10464652

1999

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

14695540

2004

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

22772377

2013

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

7611299

1995

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

8406497

1993

dbSNP:

rs140593

FBN1

0.800

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:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

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:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Guidelines for the diagnosis and management of Marfan syndrome.

17188935

2007

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.

8909500

1996

dbSNP:

rs140593

FBN1

0.800

CausalMutation

CLINVAR

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

16220557

2005