rs10488631, TNPO3

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
0.010 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
0.010 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
0.010 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
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
Immune System Diseases
CUI: C0021053
Disease: Immune System Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
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
Biliary cirrhosis
CUI: C0023892
Disease: Biliary cirrhosis
0.700 GeneticVariation GWASCAT Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269 2015
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
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. 22936693 2012
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
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASCAT Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
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
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 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
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASDB Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASCAT Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
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