Annotation Detail
Information
- Associated Genes
- TYMS
- Associated Variants
-
TYMS MUTATION
TYMS MUTATION - Associated Disease
- cleft palate
- Source Database
- DisGeNET
- Description
- We investigated two TYMS functional variants (a 28-bp tandem repeat in the promoter enhancer region of the 5'-UTR; and TYMS 1494del6 (rs16430): a 6-bp deletion in the 3'-UTR) for their risk of cleft palate (CP) and of cleft lip with/without CP (CLP).
- Pubmed
- 23404871
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122638473850682
- Year of publication
- 2013
Drugs