Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK MUTATION
BTK MUTATION - Associated Disease
- X-linked agammaglobulinemia
- Source Database
- DisGeNET
- Description
- A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia.
- Pubmed
- 25316352
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.590130047800914
Drugs