DisGeNET - a database of gene-disease associations

Congenital contractural arachnodactyly, C0220668

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:

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:

rs1206843725

FBN2

0.800

GeneticVariation

UNIPROT

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

9714438

1998

dbSNP:

rs1206843725

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:

rs1206843725

FBN2

0.800

GeneticVariation

UNIPROT

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

7493032

1995

dbSNP:

rs1206843725

FBN2

0.800

GeneticVariation

UNIPROT

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

9737771

1998

dbSNP:

rs1206843725

FBN2

0.800

GeneticVariation

UNIPROT

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

11754102

2002

dbSNP:

rs1206843725

FBN2

0.800

GeneticVariation

UNIPROT

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

19006240

2009

dbSNP:

rs1206843725

FBN2

0.800

GeneticVariation

UNIPROT

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

10797416

2000

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

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

19006240

2009

dbSNP:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

9737771

1998

dbSNP:

rs137852825

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

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

25834781

2015

dbSNP:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

7493032

1995

dbSNP:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

9714438

1998

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:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

11754102

2002

dbSNP:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

10797416

2000

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

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

9737771

1998

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:

rs137852826

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

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

19006240

2009

dbSNP:

rs137852826

FBN2

0.800

GeneticVariation

UNIPROT

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

9714438

1998