Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Arg400Trp (p.R400W), IRF6 p.Arg400Trp (p.R400W)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Arg6Cys (p.R6C), IRF6 p.Arg6Cys (p.R6C) ( ENST00000542854.5, ENST00000367021.8 )
ENSG00000289700 p.Arg400Trp (p.R400W), IRF6 p.Arg400Trp (p.R400W) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg6Cys (p.R6C), IRF6 p.Arg6Cys (p.R6C) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Van der Woude syndrome
- Source Database
- DisGeNET
- Description
- Novel mutations in the IRF6 gene for Van der Woude syndrome.
- Pubmed
- 12920575
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.575396241838457
- Year of publication
- 2003
Drugs