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

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

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

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

24882528

2014

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

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

23788249

2013

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

GeneticVariation

UNIPROT

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

22237449

2012

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

GeneticVariation

UNIPROT

The revised Ghent nosology for the Marfan syndrome.

20591885

2010

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

19941982

2010

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

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

19533785

2009

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

17657824

2007

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

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

16222657

2005

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

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

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

16220557

2005

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

Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.

15184297

2004

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

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

11826022

2002

dbSNP:

rs140593

FBN1

0.800

GeneticVariation

UNIPROT

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

12203992

2002

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

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

Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.

11780406

2001