Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Arg128Gln (p.R128Q)
(
ENST00000258411.8 )
WNT10A p.Phe228Ile (p.F228I) ( ENST00000258411.8 )
WNT10A p.Arg128Gln (p.R128Q) ( ENST00000258411.8 )
WNT10A p.Phe228Ile (p.F228I) ( ENST00000258411.8 ) - Associated Disease
- TOOTH AGENESIS, SELECTIVE, 4 (disorder)
- Source Database
- DisGeNET
- Description
- WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
- Pubmed
- 19559398
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2009
Drugs