DisGeNET - a database of gene-disease associations

VAN DER WOUDE SYNDROME 1, C4551864

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:

rs1553247774

IRF6

0.800

CausalMutation

CLINVAR

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

21045959

2010

dbSNP:

rs121434229

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs121434230

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs121434231

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs1553247774

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs1553247774

IRF6

0.800

CausalMutation

CLINVAR

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs28942093

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs28942094

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs387906967

IRF6

0.800

GeneticVariation

UNIPROT

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

19036739

2009

dbSNP:

rs121434229

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs121434230

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs121434231

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs1553247774

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs28942093

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs28942094

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs387906967

IRF6

0.800

GeneticVariation

UNIPROT

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

18478600

2008

dbSNP:

rs121434229

IRF6

0.800

GeneticVariation

UNIPROT

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

17122170

2006

dbSNP:

rs121434230

IRF6

0.800

GeneticVariation

UNIPROT

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

17122170

2006

dbSNP:

rs121434231

IRF6

0.800

GeneticVariation

UNIPROT

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

17122170

2006

dbSNP:

rs1553247774

IRF6

0.800

GeneticVariation

UNIPROT

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

17122170

2006

dbSNP:

rs28942093

IRF6

0.800

GeneticVariation

UNIPROT

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

17122170

2006

dbSNP:

rs28942094

IRF6

0.800

GeneticVariation

UNIPROT

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

17122170

2006

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

17122170

2006