IL23R, interleukin 23 receptor, 149233

N. diseases: 306; N. variants: 49
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE IL23R is an IBD susceptibility gene, but has no epistatic interaction with CARD15 and SLC22A4/5. rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC. 17786191 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE IL23R was associated with CD and UC only in the absence of CARD15 mutations, whereas ATG16L1 was associated with CD in the presence and absence of CARD15 mutations. 17894849 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 AlteredExpression disease BEFREE IL23R was expressed in both CD and UC with a great variability. 20192940 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE IL-23R gene variants have been identified as risk factors for two major inflammatory bowel diseases (IBDs), Crohn's disease and ulcerative colitis, but how they contribute to disease is poorly understood. 22262659 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE IL23R polymorphisms influence phenotype and response to therapy in patients with ulcerative colitis. 24168842 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 AlteredExpression disease BEFREE Additionally, the mRNA and protein expression of JAK2 and IL-23R were increased in UC and Crohn's disease (CD) patients. 24382939 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Both CD (OR 0.14, CI 0.06-0.37, P= 3.9E-07) and UC (OR 0.33, CI 0.15-0.73, P= 1.4E-03) were associated with IL23R. 18047540 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE By contrast, variation in the gene encoding the interleukin-23 (IL-23) receptor subunit, as well as in the IL12B, STAT3 and NKX2-3 gene regions, is associated with both Crohn's disease and ulcerative colitis. 18500230 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis. 24068945 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis. 23093364 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Eight single nucleotide polymorphism markers in IL23R tested in the North American study were genotyped in 1902 cases of Crohn's disease (CD), 975 cases of ulcerative colitis (UC), and 1345 controls using MassARRAY. 17484863 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease LHGDN Eight single nucleotide polymorphism markers in IL23R tested in the North American study were genotyped in 1902 cases of Crohn's disease (CD), 975 cases of ulcerative colitis (UC), and 1345 controls using MassARRAY. 17484863 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE For the IL23R rs1004819 A allele we found significantly higher allele frequency (P = 0.032) in UC patients compared to control subjects. 24415875 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASCAT Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASDB Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease CTD_human Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Genome-wide association studies (GWAS) in several populations have demonstrated significant association of the IL23R gene with IBD (Crohn's disease (CD) and ulcerative colitis (UC)) and psoriasis, suggesting that perturbation of the IL-23 signaling pathway is relevant to the pathophysiology of these diseases. 22022372 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE Genome-wide association studies indicate that IL23R and five additional genes involved in Th17 differentiation (IL12B, JAK2, STAT3, CCR6 and TNFSF15) are associated with susceptibility to Crohn's disease and partly also to ulcerative colitis. 19592695 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASCAT Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. 19915572 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASDB Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. 19915572 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Genotyping for UC-associated variants in the IL23R gene and in the IL2/IL21 region was performed. 20197757 2010