TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
Disease: Lupus Erythematosus, Systemic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.830 GeneticVariation BEFREE The IRF5-TNPO3 region showed the strongest association and largest OR for SLE (rs10488631: genomic control-adjusted P [Pgcadj ] = 2.61 × 10(-29), OR 2.12 [95% CI 1.88-2.39]), followed by HLA class II on the DQA2-DQB1 loci (rs9275572: Pgcadj  = 1.11 × 10(-16), OR 1.62 [95% CI 1.46-1.80] and rs9271366: Pgcadj  = 6.46 × 10(-12), OR 2.06 [95% CI 1.71-2.50]). 26606652 2016
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.830 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
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 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
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 0.830 GeneticVariation GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 0.830 GeneticVariation GWASCAT GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 0.830 GeneticVariation GWASCAT Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 0.830 GeneticVariation GWASDB Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.830 GeneticVariation BEFREE The variants of IRF5 with the highest posterior probabilities (1.00 and 0.71, respectively) of being causal in SLE are a SNP (rs10488631) located 3' of IRF5, and a novel CGGGG insertion-deletion (indel) polymorphism located 64 bp upstream of the first untranslated exon (exon 1A) of IRF5. 18063667 2008
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 0.830 GeneticVariation GWASDB Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 18204098 2008
dbSNP: rs10488631
rs10488631
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 0.830 GeneticVariation GWASCAT Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 18204098 2008
dbSNP: rs12531711
rs12531711
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.800 GeneticVariation GWASCAT A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031 2017
dbSNP: rs12531711
rs12531711
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		A 0.800 GeneticVariation GWASDB Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. 23053960 2012
dbSNP: rs12531711
rs12531711
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		A 0.800 GeneticVariation GWASCAT Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. 23053960 2012
dbSNP: rs12531711
rs12531711
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		G 0.800 GeneticVariation GWASDB Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
dbSNP: rs12531711
rs12531711
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		G 0.800 GeneticVariation GWASCAT Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
dbSNP: rs13239597
rs13239597
Entrez Id: 23534;286016
Gene Symbol: TNPO3;TPI1P2
TNPO3;TPI1P2
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation BEFREE Through a series of bioinformatics and functional analyses, we prioritized a potential independent functional single-nucleotide polymorphism (rs13239597) within TNPO3 promoter region, residing in a putative enhancer element and validated that IRF5 is the distal target gene (∼118 kb) of rs13239597, which is a key regulator involved in pathogenic autoantibody dysregulation, increasing risk of both SLE and SSc. 31421124 2020
dbSNP: rs13239597
rs13239597
Entrez Id: 23534;286016
Gene Symbol: TNPO3;TPI1P2
TNPO3;TPI1P2
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs13238352
rs13238352
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs12706861
rs12706861
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs12539741
rs12539741
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture. 26606652 2016
dbSNP: rs10239340
rs10239340
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		G 0.700 GeneticVariation GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
dbSNP: rs7789423
rs7789423
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		G 0.700 GeneticVariation GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
dbSNP: rs10239340
rs10239340
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASDB Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
dbSNP: rs10239340
rs10239340
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASDB Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 18204446 2008
dbSNP: rs10279821
rs10279821
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASDB Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 18204446 2008