Annotation Detail
Information
- Associated Genes
- STAT1
- Associated Variants
-
STAT1 MUTATION
STAT1 MUTATION - Associated Disease
- Candidiasis, Chronic Mucocutaneous
- Source Database
- DisGeNET
- Description
- Chronic mucocutaneous candidiasis (CMC) and hyper-IgE syndrome (HIES) are primary immunodeficiencies mainly caused by mutations in STAT1 and STAT3, respectively.
- Pubmed
- 23796786
- Section of the abstract supporting the evidence
- BACKGROUND
- 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,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.243800186209124
Drugs