Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK MUTATION
BTK MUTATION - Associated Disease
- X-linked agammaglobulinemia
- Source Database
- DisGeNET
- Description
- Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
- Pubmed
- 10678660
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.590130047800914
- Year of publication
- 2000
Drugs