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:

rs137852827

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:

rs137852828

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:

rs28931602

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:

rs794727560

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:

rs1206843725

FBN2

0.800

GeneticVariation

CLINVAR

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

18767143

2009

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:

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:

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:

rs137852827

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:

rs137852828

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:

rs28931602

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:

rs794727560

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

CLINVAR

Fibrillin-1 misfolding and disease.

16677079

2006

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:

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:

rs137852826

FBN2

0.800

GeneticVariation

UNIPROT

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

11754102

2002

dbSNP:

rs137852827

FBN2

0.800

GeneticVariation

UNIPROT

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

11754102

2002

dbSNP:

rs137852828

FBN2

0.800

GeneticVariation

UNIPROT

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

11754102

2002

dbSNP:

rs28931602

FBN2

0.800

GeneticVariation

UNIPROT

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

11754102

2002

dbSNP:

rs794727560

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

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

10797416

2000

dbSNP:

rs137852825

FBN2

0.800

GeneticVariation

UNIPROT

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

10797416

2000

dbSNP:

rs137852826

FBN2

0.800

GeneticVariation

UNIPROT

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

10797416

2000

dbSNP:

rs137852827

FBN2

0.800

GeneticVariation

UNIPROT

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

10797416

2000

dbSNP:

rs137852828

FBN2

0.800

GeneticVariation

UNIPROT

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

10797416

2000