Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects_gene |
gptkb:STAT3
|
| gptkbp:associatedWith |
gptkb:Hyper-IgE_syndrome
gptkb:Job's_syndrome autoimmune disorders cancers |
| gptkbp:canBe |
germline
somatic |
| gptkbp:cause |
gptkb:eczema
gptkb:chronic_mucocutaneous_candidiasis immunodeficiency recurrent infections skeletal abnormalities connective tissue abnormalities |
| gptkbp:detects |
genetic testing
sequencing |
| gptkbp:firstDescribed |
2007
|
| https://www.w3.org/2000/01/rdf-schema#label |
STAT3 mutation
|
| gptkbp:impact |
immune response
Th17 cell differentiation |
| gptkbp:impacts_pathway |
gptkb:JAK-STAT_signaling_pathway
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:bfsParent |
gptkb:LGL_Leukemia
gptkb:Immunodeficiency_with_Elevated_IgE |
| gptkbp:bfsLayer |
7
|