Annotation Detail
Information
- Associated Genes
- DUOX2
- Associated Variants
-
DUOX2 MUTATION
DUOX2 MUTATION - Associated Disease
- Iodide transport defect
- Source Database
- DisGeNET
- Description
- Mutations in 7 genes are well described causing iodine transport defect (SLC5A5), iodine organification defect (TPO, DUOX2, DUOXA2, SLC26A4), thyroglobulin (TG) synthesis or transport defect or iodotyrosine deiodinase (IYD/DEHAL1) deficiency.
- Pubmed
- 25231445
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs