IL21R, interleukin 21 receptor, 50615

N. diseases: 110; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.110 GeneticVariation disease GWASCAT A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. 28425483 2017
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.110 AlteredExpression disease BEFREE These new findings and histochemical studies showing enhanced expression of IL21 and IL21R in PBC livers (particularly in the hepatic portal tracks) support a disease mechanism in which the deregulation of the IL21 signalling pathway, in addition to CD4 T-cell activation and T-cell co-stimulation are critical components in the development of PBC. 28425483 2017