DisGeNET - a database of gene-disease associations

VAN DER WOUDE SYNDROME 1, C4551864

Variant: rs28942095 ×

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:

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:

rs28942095

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

17122170

2006

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

Gene symbol: IRF6. Disease: Van der Woude syndrome.

15300989

2004

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

14640121

2003

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

Novel mutations in the IRF6 gene for Van der Woude syndrome.

12920575

2003

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

14618417

2003

dbSNP:

rs28942095

IRF6

0.800

GeneticVariation

UNIPROT

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

12219090

2002

dbSNP:

rs28942095

IRF6

0.800

CausalMutation

CLINVAR