Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The association appeared to be confined to the nsSNP rs2,241,880 and was confirmed in 2 German independent case-control collections (combined P = 4.0 x 10(-8), odds ratio [OR] 1.45; 95% confidence interval [CI]: 1.21-1.74), a CD transmission disequilibrium test (TDT) collection, and an independent UK cohort. 17455206 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The association of T300A was replicated in the independent sample of 727 Crohn's disease cases (P = .001), and was strongly associated in the extended analysis of 1236 Crohn's cases (P = 2.4 x 10(-6)). 17484864 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASCAT Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
Inflammatory Bowel Disease 10
CUI: C1970207
Disease: Inflammatory Bowel Disease 10
0.700 GeneticVariation UNIPROT A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. 17484864 2007
Inflammatory Bowel Disease 10
CUI: C1970207
Disease: Inflammatory Bowel Disease 10
0.700 GeneticVariation UNIPROT A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. 17200669 2007
Inflammatory Bowel Disease 10
CUI: C1970207
Disease: Inflammatory Bowel Disease 10
0.700 GeneticVariation UNIPROT Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756 2007
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.100 GeneticVariation BEFREE Together with the lack of association between rs2241880 and ulcerative colitis (P > 0.4), these data suggest that the underlying biological process may be specific to Crohn disease. 17200669 2007
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.100 GeneticVariation BEFREE Allele frequencies of rs11209026 and rs2241880 were determined in 496 CD patients, 466 ulcerative colitis (UC) patients, and 591 controls. 17894849 2007
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.070 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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.070 GeneticVariation BEFREE Distribution of the relevant alleles was compared between controls and IBD patients. rs11209026 and rs2241880 genotype distributions were examined both within IBD clinical subphenotypes and CARD15 genotypes. 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 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 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 Genotyping for CARD15 (R702W, G908R, 3020insC), IL23R (rs1004819, rs7517847, rs11209026, rs10889677, rs1495965), and ATG16L1 (rs2241880) was performed in 187 children and adults with CD and 255 healthy ethnically matched controls. 18200510 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE We confirm the strong association between T300A and CD, specifically ileal subphenotype, and also report the first strong association of this variant with UC. 18671817 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The rs2241880A/G variant of the ATG16L1 gene has been associated with susceptibility to ileal Crohn's disease (CD) in adults. 18088053 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95% CI = 1.34-4.75); (Arg702Trp, OR = 6.65, 95% CI = 1.99-22.17); (1007fs, OR = 9.59, 95% CI = 3.94-23.29), and a weak association between both the protective OCTN1/OCTN2 CC haplotype (OR = 0.28, 95% CI = 0.08-0.94), and a variant of ATG16L1 gene (Thr300Ala, OR = 0.468, 95% CI = 0.24-0.90) with Crohn's disease. 18715515 2008
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 GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE A single common coding variant in the autophagy protein ATG16L1 predisposes individuals to the development of Crohn's disease: while ATG16L1 encoding threonine at amino acid position 300 (ATG16L1*300T) confers protection, ATG16L1 encoding for alanine instead of threonine (ATG16L1*300A, also known as T300A) mediates risk towards the development of Crohn's disease. 18852889 2008