Annotation Detail
Information
- Associated Genes
- HLA-DRB1
- Associated Variants
-
PTPN22 p.Trp620Arg (p.W620R)
(
ENST00000525799.1,
ENST00000538253.5,
ENST00000420377.6,
ENST00000528414.5,
ENST00000460620.5,
ENST00000359785.10 )
STAT4 c.274-23582A>C ( ENST00000392320.7, ENST00000358470.8, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 ) - Associated Disease
- rheumatoid arthritis
- Source Database
- DisGeNET
- Description
- The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 and the PTPN22 rs2476601 polymorphisms have all been linked with an increased risk of developing rheumatoid arthritis.
- Pubmed
- 22937072
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2012
Drugs