Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK MUTATION
BTK MUTATION - Associated Disease
- Primary immune deficiency disorder
- Source Database
- DisGeNET
- Description
- X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK), and is characterized by markedly decreased numbers of blood B cells and an absence of all immunoglobulin isotypes.
- Pubmed
- 25589397
- 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
- 0.00271441872080303
Drugs