Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 MUTATION
CXCR4 MUTATION - Associated Disease
- Immunodeficiency congenital
- Source Database
- DisGeNET
- Description
- Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare congenital immunodeficiency often caused by mutations in the last 10 to 19 C-terminal amino acids of CXCR4.
- Pubmed
- 25355818
- 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
- 0.000271441872080303
Drugs