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 BEFREE ATG16L1 and TNFSF15 are associated with CD in Taiwan. 21930071 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE MAP, rs2241880 (ATG16L1) and rs10045431 (IL12B) were found to be significantly associated with CD. 24522266 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE ATG16L1, a protein essential for early stages of autophagy, has been implicated in the pathogenesis of Crohn's disease. 25767270 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis. 22346247 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE IRGM, NOD2, and ATG16L1, all of which are Crohn's disease risk factors, form a molecular complex to modulate autophagic responses to microbial products. 25891078 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE The aim of the present study was to investigate the genetic polymorphisms of the autophagy-associated genes autophagy-related 16-like 1 (ATG16L1), immunity-related GTPase M (IRGM), Unc-51-like kinase 1 (ULK1), and NOD2 with respect to early-onset Crohn disease (CD) among Korean children. 25944217 2015
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 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 ATG16L1 T300A polymorphism contributes to susceptibility to CD and UC in adults, but different in children, which implicates a role for autophagy in the pathogenesis of IBD. 20222171 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Indeed, genes important in the regulation of the IL-17-IL-23 pathway and, in Crohn's disease, genes important for autophagy (that is, NOD2 and ATG16L1 and IRGM) have a role in conferring susceptibility of individuals to these diseases. 22487796 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE We found strong evidence of CD-association for 195 genes, identifying novel susceptibility genes (e.g., ISX, SLCO6A1, TMEM183A) as well as confirming many previously identified susceptibility genes in CD GWAS (e.g., IL23R, NOD2, CYLD, NKX2-3, IL12RB2, ATG16L1). 23071489 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE In particular, the importance of the innate immune system has been reaffirmed with the identification of IRGM and ATG16L1 genes in the autophagy pathway as CD susceptibility genes. 19897957 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE ATG16L1 and NOD2 are components of an autophagy-mediated antibacterial pathway that is altered in a cell- and function-specific manner by CD-associated mutations. 20637199 2010
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 BEFREE This meta-analysis suggests that the G allele of ATG16L1 T300A is a low-penetrant gene for developing CD in Caucasians. 19337756 2009
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 BEFREE Conclusion In this meta-analysis, the ATG16L1 genotype was significantly associated with the risk of developing Crohn's disease. 27698206 2017
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 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 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 GeneticVariation disease BEFREE The association of ATG16L1 T300A with CD was confirmed [P = 0.004, odds ratio (OR) = 1.69, 95% CI: 1.19-2.41], and both IL23R variants were found to represent significant risk for the disease (P = 0.008, OR = 2.05, 95% CI: 1.20-3.50 for rs1004819 AA; P < 0.001, OR = 2.97, 95% CI: 1.65-5.33 for rs2201841 CC). 20066736 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE In contrast to the North American population, PHOX2B, NCF4, FAM92B, and rs224136 are not associated with CD in the European population, whereas NOD2/CARD15, IL23R, and ATG16L1 are strongly associated with CD in both the North American and European populations, confirming these three genes as major CD susceptibility genes in Caucasian populations. 19262523 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation disease BEFREE Low serum zinc levels predict presence of depression symptoms, but not overall disease outcome, regardless of ATG16L1 genotype in Crohn's disease patients. 29487628 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 Biomarker disease BEFREE Gene-gene interaction analysis revealed significant interactions between MST1 and other susceptibility genes, including NOD2, MUC19 and ATG16L1 in contributing to Crohn's disease risk. 29441677 2018