Annotation Detail
Information
- Associated Genes
- STAT3
- Associated Variants
-
STAT3 MUTATION
STAT3 MUTATION - Associated Disease
- aplastic anemia
- Source Database
- DisGeNET
- Description
- Germline loss-of-function mutations in the transcription factor signal transducer and activator of transcription 3 (STAT3) cause immunodeficiency, whereas somatic gain-of-function mutations in STAT3 are associated with large granular lymphocytic leukemic, myelodysplastic syndrome, and aplastic anemia.
- Pubmed
- 25359994
- 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
- 0.000542883744160607
Drugs