DisGeNET - a database of gene-disease associations

Marfan Syndrome, C0024796

Variant: rs137854457 ×

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:

rs137854457

FBN1

0.800

GeneticVariation

UNIPROT

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

7870075

1994

dbSNP:

rs137854457

FBN1

0.800

GeneticVariation

UNIPROT

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

8071963

1994

dbSNP:

rs137854457

FBN1

0.800

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:

rs137854457

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:

rs137854457

FBN1

0.800

GeneticVariation

UNIPROT

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

8281141

1993

dbSNP:

rs137854457

FBN1

0.800

GeneticVariation

CLINVAR

dbSNP:

rs137854457

FBN1

0.800

CausalMutation

CLINVAR