Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aggressive Periodontitis
CUI: C0031106
Disease: Aggressive Periodontitis
0.010 GeneticVariation BEFREE The data analysis revealed a significantly higher frequency distribution of the rs2241880 G (odds ratio [OR] = 1.88, p = 0.0073) and rs2241879 A (OR = 1.87, p = 0.0079) allele in the PPP group when compared with the control group. 21513755 2011
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE Our results suggest that ATG16L1 T300A polymorphism may be associated with gastric carcinogenesis. 26547861 2016
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE Lung cancer cell lines stably transfected with ATG16L1: rs2241880 (T300A) were established. 28441070 2017
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
0.010 GeneticVariation BEFREE The ATG16L1 gene variant rs2241880 (p.T300A) is associated with susceptibility to HCC in patients with cirrhosis. 31484215 2019
Colonic Diseases
CUI: C0009373
Disease: Colonic Diseases
0.010 GeneticVariation BEFREE Using binary logistic regression analysis we confirmed the effect of rs2241880 genotype (GG) on ileal disease versus colonic disease (P = 0.03, OR 2.43, 95% CI 1.05-5.65). 18088053 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 GeneticVariation BEFREE In this study, we aimed to determine if ATG16L1 +898A>G (Thr300Ala) polymorphism is associated with an increased risk of developing colorectal cancer (CRC) and to establish correlations between ATG16L1 genotypes and the major clinical and morphological parameters. 24715166 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 GeneticVariation BEFREE The CD-risk allele, Thr300Ala, in ATG16L1 is associated with improved overall survival in human CRC, generating a rationale to genotype ATG16L1 Thr300Ala in patients with CRC. 25645662 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Human macrophages with the Crohn's disease-associated Atg16l1 variant T300A exhibited more production of IFN-β and IL-1β. 29358708 2018
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The CD-risk allele, Thr300Ala, in ATG16L1 is associated with improved overall survival in human CRC, generating a rationale to genotype ATG16L1 Thr300Ala in patients with CRC. 25645662 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC. 19491842 2009
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Unconventional autophagy mediated by the WD40 domain of ATG16L1 is derailed by the T300A Crohn disease risk polymorphism. 27541200 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE For ATG16L1, the rs2241880 SNP was associated with CD susceptibility (OR 1.36, CI 1.12-1.66, P= 0.0017). 18047540 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB Systematic association mapping identifies NELL1 as a novel IBD disease gene. 17684544 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE ATG16L1 has been particularly well studied in knockout and hypomorph settings as well as models recapitulating the Crohn disease-associated T300A polymorphism. 31451676 2019
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Individuals who harbor a common coding polymorphism (Thr300Ala) within a structurally unclassified region of ATG16L1 are at increased risk for the development of Crohn disease. 25136803 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. 22412388 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE As no epistatic interaction with three common NOD2/CARD15 mutations was observed, the p.Thr300Ala substitution is an independent risk factor for paediatric CD and supports the role for autophagy in disease pathogenesis. 19659808 2009
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population. 18162085 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. 17894849 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE DC of pediatric patients with CD carrying the T300A allele showed a marked impairment of antigen uptake and processing and defective interactions between DC and intestinal epithelium. 24022642 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). 20082483 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE We found a statistically significant interaction with respect to Crohn disease risk between rs2241880 and the established CARD15 susceptibility variants (P = 0.039). 17200669 2007