TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
Disease: Systemic Scleroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease 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
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASCAT Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. 24387989 2014