ATG5, autophagy related 5, 9474

N. diseases: 282; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.830 GeneticVariation BEFREE Therefore, the binding of KLF4 and the subsequent recruitment of HDACs represent a mechanism for reduced BLIMP1 expression in MO-DCs bearing the SLE risk allele rs548234. 28097234 2017
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.830 GeneticVariation BEFREE We confirmed the association of rs548234, rs2736340 and rs10516487 with SLE in Chinese Han and reinforced our hypothesis of their epistasis effect in regulating B-cell signaling in SLE. 26420661 2016
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.830 GeneticVariation BEFREE Meta-analysis consolidated the association between rs548234 and SLE (OR 1.254, p=1.28×10(-16)). 21622776 2011
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		G 0.830 GeneticVariation GWASCAT Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. 19838193 2009
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		G 0.830 GeneticVariation GWASDB Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. 19838193 2009
dbSNP: rs9372120
rs9372120
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0003873
Disease:
Rheumatoid Arthritis 		T 0.800 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
dbSNP: rs6568431
rs6568431
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
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: rs6568431
rs6568431
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.800 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966 2016
dbSNP: rs6568431
rs6568431
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		A 0.800 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338 2015
dbSNP: rs9372120
rs9372120
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0003873
Disease:
Rheumatoid Arthritis 		G 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs9372120
rs9372120
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0003873
Disease:
Rheumatoid Arthritis 		G 0.800 GeneticVariation GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs3827644
rs3827644
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0036421
Disease:
Systemic Scleroderma 		0.800 GeneticVariation GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs3827644
rs3827644
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0036421
Disease:
Systemic Scleroderma 		0.800 GeneticVariation GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs6911490
rs6911490
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0009324
Disease:
Ulcerative Colitis 		T 0.800 GeneticVariation GWASCAT Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs6911490
rs6911490
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0009324
Disease:
Ulcerative Colitis 		T 0.800 GeneticVariation GWASDB Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs6568431
rs6568431
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		A 0.800 GeneticVariation GWASCAT A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195 2009
dbSNP: rs6568431
rs6568431
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.800 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: rs573775
rs573775
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.720 GeneticVariation BEFREE Among the three investigated SNPs, only the rs573775 SNP was significantly associated with disease susceptibility with the variant allele conferring a higher risk of developing SLE (OR = 1.50, p = 0.018 and OR = 1.48, p = 0.007 at the genotypic and allelic level, respectively). 29759048 2018
dbSNP: rs573775
rs573775
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.720 GeneticVariation BEFREE In conclusion, the Atg5 rs573775 T* allele seems to influence SLE susceptibility, cytokine production and disease features depending on other factors such as functional IL-10 genotype. 24205307 2013
dbSNP: rs573775
rs573775
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.720 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: rs3804333
rs3804333
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs633724
rs633724
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0036421
Disease:
Systemic Scleroderma 		T 0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
dbSNP: rs802791
rs802791
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs802791
rs802791
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs802791
rs802791
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0036421
Disease:
Systemic Scleroderma 		0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019