Annotation Detail
Information
- Associated Genes
- STAT3
- Associated Variants
-
STAT3 MUTATION
STAT3 MUTATION - Associated Disease
- Primary immune deficiency disorder
- Source Database
- DisGeNET
- Description
- HIES are a group of primary immunodeficiencies with overlapping and distinct features, most frequently caused by deficiency in signal transducer and activator of transcription 3 (STAT3) or dedicator of cytokinesis 8 (DOCK8).
- Pubmed
- 25469836
- Section of the abstract supporting the evidence
- PURPOSE OF REVIEW
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
Drugs