DisGeNET - a database of gene-disease associations

Marfan Syndrome, C0024796

Variant: rs137854461 ×

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:

rs137854461

FBN1

0.820

GeneticVariation

BEFREE

In this study we have used three proteases to probe structural changes caused by an N2144S MFS calcium binding mutation in a TB6-cbEGF32 and a cbEGF32-33 domain pair, and an N2183S mutation in the cbEGF32-33 pair.

10942427

2000

dbSNP:

rs137854461

FBN1

0.820

GeneticVariation

UNIPROT

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

8281141

1993

dbSNP:

rs137854461

FBN1

0.820

GeneticVariation

UNIPROT

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

19941982

2010

dbSNP:

rs137854461

FBN1

0.820

GeneticVariation

UNIPROT

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

15184297

2004

dbSNP:

rs137854461

FBN1

0.820

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:

rs137854461

FBN1

0.820

GeneticVariation

UNIPROT

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

11826022

2002

dbSNP:

rs137854461

FBN1

0.820

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:

rs137854461

FBN1

0.820

GeneticVariation

UNIPROT

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

12203992

2002

dbSNP:

rs137854461

FBN1

0.820

CausalMutation

CLINVAR

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

17657824

2007

dbSNP:

rs137854461

FBN1

0.820

GeneticVariation

UNIPROT

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

17657824

2007

dbSNP:

rs137854461

FBN1

0.820

GeneticVariation

UNIPROT

The revised Ghent nosology for the Marfan syndrome.

20591885

2010

dbSNP:

rs137854461

FBN1

0.820

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:

rs137854461

FBN1

0.820

CausalMutation

CLINVAR

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

12938084

2003

dbSNP: