DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Marfan Syndrome ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs25403

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs112836174

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs111984349

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs137854461

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.820

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

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs137854468

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs137854468

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs137854467

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs137854467

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs137854462

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs137854462

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs363853

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs363853

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs363815

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs363815

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs363804

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs363804

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs140603

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs140603

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs140599

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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:

rs140599

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

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