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: rs1131692265
rs1131692265
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C4539808
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 		0.700 GeneticVariation UNIPROT
dbSNP: rs752612830
rs752612830
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE The release of [(3)H]D-aspartate ([(3)H]D-ASP) or [(3)H]GABA evoked by glycine from spinal cord synaptosomes was compared in mice expressing mutant human SOD1 with a Gly(93) Ala substitution ([SOD1-G93A(+)]), a transgenic model of amyotrophic lateral sclerosis, and in control mice. 12684256 2003
dbSNP: rs752612830
rs752612830
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE We studied the release of [3H]d-aspartate ([3H]d-ASP) and endogenous glutamate evoked by glycine (GLY) or GABA from spinal cord synaptosomes in mice expressing a mutant form of human SOD1 with a Gly93Ala substitution ([SOD1-G93A(+)]), a transgenic model of amyotrophic lateral sclerosis, in mice expressing the non-mutated form of human SOD1 [SOD1+], and in non-transgenic littermates [SOD1(-)/G93A(-)]. 15885796 2005
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 GWASDB Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 18204446 2008
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: 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: rs538557
rs538557
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0027404
Disease:
Narcolepsy 		0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs1312391542
rs1312391542
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma 		0.010 GeneticVariation BEFREE A single-base substitution was found in exon 1 (227G>A) of the XBP1 gene in a patient with diffuse large B-cell lymphoma, resulting in a somatic missense mutation (R76K). 19380033 2009
dbSNP: rs1312391542
rs1312391542
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C1332201
Disease:
Adult Diffuse Large B-Cell Lymphoma 		0.010 GeneticVariation BEFREE A single-base substitution was found in exon 1 (227G>A) of the XBP1 gene in a patient with diffuse large B-cell lymphoma, resulting in a somatic missense mutation (R76K). 19380033 2009
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: 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: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0026769
Disease:
Multiple Sclerosis 		0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
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
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
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
dbSNP: rs6568431
rs6568431
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0026769
Disease:
Multiple Sclerosis 		0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
dbSNP: rs548234
rs548234
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.010 GeneticVariation BEFREE Our results showed no involvement of rs548234 at PRDM1-ATG5 region in the susceptibility or clinical relevance of RA in Chinese Han population. 22040493 2011
dbSNP: rs12201458
rs12201458
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0004096
Disease:
Asthma 		0.010 GeneticVariation BEFREE We demonstrated that ATG5 single nucleotide polymorphisms rs12201458 and rs510432 were associated with asthma (p = 0.00085 and 0.0025, respectively). 22536318 2012
dbSNP: rs12212740
rs12212740
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0004096
Disease:
Asthma 		0.010 GeneticVariation BEFREE We found variant rs12212740, an intronic SNP of ATG5, to be associated with asthma and forced expiratory volume in 1 second (FEV(1)) percent predicted in the French Canadian population and with FEV(1) in an American Caucasian cohort. 22498476 2012
dbSNP: rs510432
rs510432
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
CUI: C0004096
Disease:
Asthma 		0.010 GeneticVariation BEFREE We demonstrated that ATG5 single nucleotide polymorphisms rs12201458 and rs510432 were associated with asthma (p = 0.00085 and 0.0025, respectively). 22536318 2012
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: 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