Annotation Detail
Information
- Associated Genes
- DUOX2
- Associated Variants
-
DUOX2 MUTATION
DUOX2 MUTATION - Associated Disease
- Endemic Cretinism
- Source Database
- DisGeNET
- Description
- Our findings demonstrate that changing the highly conserved valine 674 in Duox2 leads to impaired subcellular targeting and reactive oxygen species release required for hormonogenesis, resulting in congenital hypothyroidism.
- Pubmed
- 24853759
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00597172118576667
Drugs