Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCL12 c.*519G>A
(
ENST00000395793.7,
ENST00000374429.6 )
CXCL12 c.*519G>A ( ENST00000374429.6, ENST00000395793.7 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-derived factor-1 (SDF1)-3'A) in CXCL12/SDF1 gene was assessed in breast cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL), since the chemokine CXCL12, previously known as SDF1, and its receptor CXCR4 regulate leukocyte trafficking and many essential biological processes, including tumor growth, angiogenesis, and metastasis of different types of tumors.
- Pubmed
- 19927352
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0289683354424718
- Year of publication
- 2009
Drugs