rs10488631, TNPO3

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation BEFREE A Combination of CD28 (rs1980422) and IRF5 (rs10488631) Polymorphisms Is Associated with Seropositivity in Rheumatoid Arthritis: A Case Control Study. 27092776 2016
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122 2017
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASCAT Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study. 30247649 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASDB Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 18204098 2008
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASCAT Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 18204098 2008
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation BEFREE Both the CGGGG indel and rs10488631 are relevant for RA susceptibility, especially for seronegative RA. 21807777 2011
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASCAT Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASDB Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
Diffuse Scleroderma
CUI: C1258104
Disease: Diffuse Scleroderma
0.700 GeneticVariation GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
Scleroderma, Limited
CUI: C0748540
Disease: Scleroderma, Limited
0.700 GeneticVariation GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338 2015
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASDB Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASCAT Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASCAT Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
Biliary cirrhosis
CUI: C0023892
Disease: Biliary cirrhosis
0.700 GeneticVariation GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASCAT GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012