Annotation Detail
Information
- Associated Genes
- BTK
- Associated Variants
-
BTK MUTATION
BTK MUTATION - Associated Disease
- X-linked agammaglobulinemia
- Source Database
- DisGeNET
- Description
- A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient.
- Pubmed
- 25680287
- 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