Annotation Detail
Information
- Associated Genes
- DUOX2
- Associated Variants
-
DUOX2 MUTATION
DUOX2 MUTATION - Associated Disease
- chronic granulomatous disease
- Source Database
- DisGeNET
- Description
- Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the subunits of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) oxidase enzyme, and is characterized by recurrent life-threatening bacterial and fungal infections.
- Pubmed
- 24446915
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
Drugs