Annotation Detail

Information
Associated Genes
CXCL12
Associated Variants
CXCL12 c.*519G>A ( ENST00000395793.7, ENST00000374429.6 )
CXCL12 c.*519G>A ( ENST00000374429.6, ENST00000395793.7 )
Associated Disease
Neoplasm Metastasis
Source Database
DisGeNET
Description
The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/SDF1-3'A) in the CXCL12 gene and the relative expression of mRNA CXCL12 in peripheral blood were assessed in breast cancer patients, since the chemokine CXCL12 and its receptor CXCR4 regulate leukocyte trafficking and many essential biological processes, including tumor growth, angiogenesis and metastasis of different types of tumors.
Pubmed
21592819
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.181455109828454
Year of publication
2011
Drugs