IL2RA, interleukin 2 receptor subunit alpha, 3559

N. diseases: 540; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 GermlineCausalMutation disease ORPHANET Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. 9096364 1997
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND Follicular bronchiolitis as phenotype associated with CD25 deficiency. 24116927 2014
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 GeneticVariation disease UNIPROT Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. 23416241 2013
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important. 17196245 2007
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important. 17196245 2007
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease BEFREE PBC is virtually absent in children with the exception of one reported child with interleukin 2 receptor α (CD25) deficiency which is associated with an IPEX-like regulatory T cell dysfunction. 20650610 2010
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 GeneticVariation disease UNIPROT Follicular bronchiolitis as phenotype associated with CD25 deficiency. 24116927 2014
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 CausalMutation disease CLINVAR
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease CTD_human
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 Biomarker disease BEFREE This underlines the relevance of IL2RA for RA. 26350950 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 Biomarker disease CTD_human We observed an increased expression of full-length FoxP3 mRNA in RA patients when compared to healthy controls, as well as an increase in CD25 mRNA expression, but no corresponding increase in CTLA-4 mRNA expression. 20476861 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 AlteredExpression disease BEFREE A dual action of rheumatoid arthritis synovial fibroblast IL-15 expression on the equilibrium between CD4+CD25+ regulatory T cells and CD4+CD25- responder T cells. 20007590 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 GeneticVariation disease GWASDB Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 GeneticVariation disease GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 Biomarker disease BEFREE Phenotypic, Functional, and Gene Expression Profiling of Peripheral CD45RA+ and CD45RO+ CD4+CD25+CD127(low) Treg Cells in Patients With Chronic Rheumatoid Arthritis. 26314565 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 Biomarker disease CTD_human Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 GeneticVariation disease GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 AlteredExpression disease BEFREE Within the CD4 T lymphocytes subset we found that the CD45RO- (naive) cells selectively in RA displayed higher levels of CD25 protein and of interferon-gamma mRNA expression when compared with the respective subset of all other investigated groups. 1347492 1992
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 GeneticVariation disease GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 Biomarker disease CTD_human High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 GeneticVariation disease GWASDB Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 GeneticVariation disease BEFREE We observed an accumulation of rare nonsynonymous variants exclusive to RA cases in IL2RA and IL2RB (burden test: p = 0.007 and p = 0.018, respectively). 23261300 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 AlteredExpression disease BEFREE DNA microarray analysis of peripheral blood lymphocytes showed significant increase of interleukin (IL)-2 receptor α-chain (CD25) gene expression, a regulatory T cell (Treg) surface marker in severe RA patients. 21670968 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.500 Biomarker disease BEFREE CD4(+)CD25(+)Foxp3(+) regulatory T cells (Treg) are involved in several autoimmune diseases, including rheumatoid arthritis. 21346237 2011