Annotation Detail
Information
- Associated Genes
- JAK3
- Associated Variants
-
JAK3 MUTATION
JAK3 MUTATION - Associated Disease
- Precursor Cell Lymphoblastic Leukemia Lymphoma
- Source Database
- DisGeNET
- Description
- Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a homozygous JAK3 activating mutation, V674A, caused by acquired uniparental disomy (UPD).
- Pubmed
- 25430085
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs