Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK MUTATION
BTK MUTATION - Associated Disease
- Precursor B-cell lymphoblastic leukemia
- Source Database
- DisGeNET
- Description
- X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number of peripheral B cells and diminished levels of serum immunoglobulins, and caused by a mutation in the Bruton's tyrosine kinase (BTK) gene, which play a pivotal role in signal transduction of pre-B-cell receptor (BCR) and BCR.
- Pubmed
- 25591849
- 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
- 0.00244297684872273
Drugs