Annotation Detail
Information
- Associated Genes
- DECR1
- Associated Variants
-
DECR1 MUTATION
DECR1 MUTATION - Associated Disease
- Congenital goiter
- Source Database
- DisGeNET
- Description
- A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.
- Pubmed
- 25675383
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs