DisGeNET - a database of gene-disease associations

Marfan Syndrome, C0024796

Variant: rs137854478 ×

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:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

22772377

2013

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

8071963

1994

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

The revised Ghent nosology for the Marfan syndrome.

20591885

2010

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

17657824

2007

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

15161917

2004

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

BEFREE

Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome.

10766875

2000

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

CLINVAR

dbSNP:

rs137854478

FBN1

0.810

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:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

8004112

1994

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

7870075

1994

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

7951214

1994

dbSNP:

rs137854478

FBN1

0.810

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:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854478

FBN1

0.810

CausalMutation

CLINVAR

Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome.

10766875

2000

dbSNP:

rs137854478

FBN1

0.810

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:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

24882528

2014

dbSNP:

rs137854478

FBN1

0.810

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:

rs137854478

FBN1

0.810

CausalMutation

CLINVAR

Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.

17324963

2007

dbSNP:

rs137854478

FBN1

0.810

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:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

12203992

2002

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

19941982

2010

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

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

8909500

1996

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

8281141

1993

dbSNP:

rs137854478

FBN1

0.810

GeneticVariation

UNIPROT

Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

10425041

1999