Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK MUTATION
BTK MUTATION - Associated Disease
- X-linked agammaglobulinemia
- Source Database
- DisGeNET
- Description
- X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK).
- Pubmed
- 25638286
- 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,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.590130047800914
Drugs