ATG16L1, autophagy related 16 like 1, 55054

N. diseases: 120; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Twenty one patients with IBD (10 with ulcerative colitis (UC), 11 with Crohn's disease (CD)), seven disease specificity controls (DSC), and seven healthy controls were studied. 11171821 2001
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease CTD_human Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. 17200669 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASDB Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease LHGDN Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease. 17625155 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. 17484864 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Recently, positive association of CD with the variants in interleukin 23 receptor (IL23R), autophagy-related 16-like 1 (ATG16L1) genes and chromosome 5p13.1 locus was reported through genome-wide association studies which are now recognised as a robust tool for the identification of susceptibility genes for complex diseases. 17534574 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE We replicated the previously reported associations between CD and rs11209026 and rs2241880, confirming that IL23R and ATG16L1 are susceptibility loci for CD in the New Zealand population. 17894849 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASDB Systematic association mapping identifies NELL1 as a novel IBD disease gene. 17684544 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease LHGDN We replicated the previously reported associations between CD and rs11209026 and rs2241880, confirming that IL23R and ATG16L1 are susceptibility loci for CD in the New Zealand population. 17894849 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASCAT Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease LHGDN A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. 17200669 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE We confirmed the findings that ATG16L1 is a CD susceptibility gene and found no evidence of interaction with CARD15, IL23R, or IBD5. 17455206 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease LHGDN A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. 17484864 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASDB Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE With the recent completion of the human genome project, whole genome association studies (WGAS) have now become possible and have identified additional genes (IL23R, IRGM, PTGER4, ATG16L1) for Crohn's disease and ulcerative colitis, that have subsequently been replicated. 18473763 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE The critical next step is functional characterization of the CD-associated genetic variants in IRGM and ATG16L. 17921695 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE All nine ATG16L1 gene variants analyzed displayed highly significant associations with CD demonstrating a CD-protective effect for the minor allele. 18162085 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease CTD_human We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. 18438406 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease LHGDN With respect to ATG16L1, the G allele of SNP rs2241880 has been shown in multiple association studies to confer strong risk for CD, although its association with UC remains more debatable. 18366306 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE With respect to ATG16L1, the G allele of SNP rs2241880 has been shown in multiple association studies to confer strong risk for CD, although its association with UC remains more debatable. 18366306 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease LHGDN Thus, we propose that the association of ATG16L1*300A with increased risk of Crohn's disease is due to impaired bacterial handling and lowered rates of bacterial capture by autophagy. 18852889 2008