Annotation Detail

Information
Associated Genes
ITGAM
Associated Variants
ITGAM p.Arg77His (p.R77H) ( ENST00000648685.1, ENST00000544665.9 )
ITGAM p.Arg77His (p.R77H) ( ENST00000544665.9, ENST00000648685.1 )
Associated Disease
Lupus Erythematosus, Systemic
Source Database
DisGeNET
Description
The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes.
Pubmed
22586164
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.27872910640394
Year of publication
2012
Drugs