TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 GeneticVariation disease UNIPROT A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 31071488 2019
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 GeneticVariation disease UNIPROT Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. 31192305 2019
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 GeneticVariation disease UNIPROT The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. 31465518 2019
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 GeneticVariation disease UNIPROT Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. 23667635 2013
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 GeneticVariation disease UNIPROT Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 23543484 2013
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 GermlineCausalMutation disease ORPHANET Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 23543484 2013
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 GeneticVariation disease CLINVAR
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 CausalMutation disease CLINVAR
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 Biomarker disease CTD_human
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.410 GeneticVariation disease 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
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.410 GeneticVariation disease GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.410 GeneticVariation disease GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.410 GeneticVariation disease GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.410 Biomarker disease BEFREE To examine the genetics of susceptibility to primary biliary cirrhosis (PBC), genome-wide association studies GWAS have been performed in patients of European ancestry and have shown the significant associations of IL12-related pathways, SPIB, IRF5-TNPO3, and 17q12-21. 21506939 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.410 GeneticVariation disease GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.410 SusceptibilityMutation disease ORPHANET
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 GeneticVariation disease GWASCAT A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 GeneticVariation disease GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 GeneticVariation disease 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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 GeneticVariation disease 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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 Biomarker disease BEFREE The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. 25205108 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.130 GeneticVariation disease GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014