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

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

7738200

1995

dbSNP:

rs137854478

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.810

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854468

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.810

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854467

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.810

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854462

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.810

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs363853

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs363815

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs363804

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs140603

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs140599

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs140593

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs140592

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854482

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854480

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854474

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854471

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854470

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854469

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854464

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854463

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854460

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995

dbSNP:

rs137854459

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

UNIPROT

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

7738200

1995