Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Pro396Ser (p.P396S), IRF6 p.Pro396Ser (p.P396S)
(
ENST00000542854.5,
ENST00000367021.8 )
ENSG00000289700 p.Arg45Gln (p.R45Q), IRF6 p.Arg45Gln (p.R45Q) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Pro396Ser (p.P396S), IRF6 p.Pro396Ser (p.P396S) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg45Gln (p.R45Q), IRF6 p.Arg45Gln (p.R45Q) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Van der Woude syndrome
- Source Database
- DisGeNET
- Description
- Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.
- Pubmed
- 14618417
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.575396241838457
- Year of publication
- 2003
Drugs