DisGeNET - a database of gene-disease associations

FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1206843725

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

27196565

2016

dbSNP:

rs137852825

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

27196565

2016

dbSNP:

rs137852826

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

27196565

2016

dbSNP:

rs137852827

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

27196565

2016

dbSNP:

rs137852828

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

27196565

2016

dbSNP:

rs28931602

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

27196565

2016

dbSNP:

rs794727560

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

27196565

2016

dbSNP:

rs1206843725

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

25834781

2015

dbSNP:

rs137852825

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

25834781

2015

dbSNP:

rs137852826

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

25834781

2015

dbSNP:

rs137852827

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

25834781

2015

dbSNP:

rs137852828

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

25834781

2015

dbSNP:

rs28931602

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

25834781

2015

dbSNP:

rs794727560

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

25834781

2015

dbSNP:

rs17608902

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0149931
Disease:

Migraine Disorders

0.800

GeneticVariation

GWASCAT

Genome-wide meta-analysis identifies new susceptibility loci for migraine.

23793025

2013

dbSNP:

rs17608902

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0149931
Disease:

Migraine Disorders

0.800

GeneticVariation

GWASDB

Genome-wide meta-analysis identifies new susceptibility loci for migraine.

23793025

2013

dbSNP:

rs1206843725

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs137852825

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs137852826

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs137852827

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs137852828

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs267606802

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs28931602

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs794727560

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evaluation of the adolescent or adult with some features of Marfan syndrome.

22237449

2012

dbSNP:

rs1206843725

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0220668
Disease:

Congenital contractural arachnodactyly

0.800

GeneticVariation

UNIPROT

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

20799338

2010