Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 MUTATION
CXCR4 MUTATION - Associated Disease
- WHIM syndrome
- Source Database
- DisGeNET
- Description
- In competitive mouse bone marrow (BM) transplantation experiments, Cxcr4 haploinsufficiency was sufficient to confer a strong long-term engraftment advantage of donor BM over BM from either wild-type or WHIM syndrome model mice, suggesting a potential mechanism for the patient's cure.
- Pubmed
- 25662009
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET
- DisGENET score for the Gene Disease association
- 0.449771907394891
Drugs