Annotation Detail

Information
Associated Genes
CTLA4
Associated Variants
RSBN1 p.Arg31= (p.R31=) ( ENST00000612242.4, ENST00000261441.9 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000612242.4, ENST00000261441.9 )
rs7528684
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
rs7528684
Associated Disease
Graves Disease
Source Database
DisGeNET
Description
These preliminary results demonstrate that the immune-regulatory gene CTLA-4 and the thyroid-specific gene Tg contribute to the risk of Graves' disease with additive effects, while PTPN22 rs3789604 and FCRL3 rs7528684 polymorphisms are protective against the disease.
Pubmed
19438904
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.228259749261344
Year of publication
2010
Drugs