Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Ala2Val (p.A2V), IRF6 p.Ala2Val (p.A2V)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Ala2Val (p.A2V), IRF6 p.Ala2Val (p.A2V) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Van der Woude syndrome
- Source Database
- DisGeNET
- Description
- The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32-q41 (refs 2,3).
- Pubmed
- 12219090
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.575396241838457
- Year of publication
- 2002
Drugs