Annotation Detail

Information
Associated Genes
STAT3
Associated Variants
STAT3 MUTATION
STAT3 MUTATION
Associated Disease
Primary immune deficiency disorder
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
DisGENET score for the Gene Disease association
0.00190009310456212
Drugs