DisGeNET - a database of gene-disease associations

Congenital contractural arachnodactyly, C0220668

Source: ALL

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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:

rs1206843725

FBN2

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

FBN2

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

FBN2

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

FBN2

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

FBN2

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

FBN2

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

FBN2

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

FBN2

0.800

GeneticVariation

UNIPROT

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

25834781

2015

dbSNP:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

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

25834781

2015

dbSNP:

rs137852826

FBN2

0.800

GeneticVariation

UNIPROT

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

25834781

2015

dbSNP:

rs137852827

FBN2

0.800

GeneticVariation

UNIPROT

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

25834781

2015

dbSNP:

rs137852828

FBN2

0.800

GeneticVariation

UNIPROT

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

25834781

2015

dbSNP:

rs28931602

FBN2

0.800

GeneticVariation

UNIPROT

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

25834781

2015

dbSNP:

rs794727560

FBN2

0.800

GeneticVariation

UNIPROT

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

25834781

2015

dbSNP:

rs1206843725

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs137852826

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs137852827

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs137852828

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs267606802

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs28931602

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs794727560

FBN2

0.800

GeneticVariation

UNIPROT

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

22237449

2012

dbSNP:

rs1206843725

FBN2

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

dbSNP:

rs137852825

FBN2

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

dbSNP:

rs137852826

FBN2

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