Annotation Detail
Information
- Associated Genes
- DUOX2
- Associated Variants
-
DUOX2 MUTATION
DUOX2 MUTATION - Associated Disease
- congenital hypothyroidism
- Source Database
- DisGeNET
- Description
- Because the relationships between DUOX2 genotypes and clinical phenotypes are extremely complex, however, further studies are needed to identify more mutations in known genes which are involved in CH and goitre.
- Pubmed
- 24735383
- Section of the abstract supporting the evidence
- CONCLUSION
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.131420421670701
Drugs