|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Lung cancer cell lines stably transfected with ATG16L1: rs2241880 (T300A) were established.
|
28441070 |
2017 |
|
Carcinoma of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Lung cancer cell lines stably transfected with ATG16L1: rs2241880 (T300A) were established.
|
28441070 |
2017 |
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Lung cancer cell lines stably transfected with ATG16L1: rs2241880 (T300A) were established.
|
28441070 |
2017 |
|
Pediatric Crohn's disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
T300A variant of autophagy ATG16L1 gene is associated with decreased antigen sampling and processing by dendritic cells in pediatric Crohn's disease.
|
24022642 |
2013 |
|
Inflammatory Bowel Disease 10
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3.
|
24553140 |
2014 |
|
Necrotizing Enterocolitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A functional ATG16L1 (T300A) variant is associated with necrotizing enterocolitis in premature infants.
|
27893720 |
2017 |
|
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 |
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
GWASDB |
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
|
22412388 |
2012 |
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
GWASCAT |
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
|
22412388 |
2012 |
|
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 |
|
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 |
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A single-nucleotide polymorphism (SNP) encoding a missense variant in the autophagy gene ATG16L1 (rs2241880, Thr300Ala) is strongly associated with the incidence of Crohn's disease.
|
24553140 |
2014 |
|
Urinary tract infection
|
|
0.010 |
GeneticVariation
|
BEFREE |
Abbreviations: 3-PEHPC: 3-pyridinyl ethylidene hydroxyl phosphonocarboxylate; ATG: autophagy; ATG16L1: autophagy related 16 like 1; BECs: bladder epithelial cells; dpi: days post infection; hpi: hours post infection; IF: immunofluorescence; IL1B: interleukin 1 beta; IL6: interleukin 6; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; MVB: multivesicular bodies; T300A: Thr300Ala; TNF: tumor necrosis factor; QIR(s): quiescent intracellular reservoir(s); siRNA: short interfering RNA; UPEC: uropathogenic Escherichia coli; UTI(s): urinary tract infection(s); TEM: transmission electron microscopy; WT: wild type.
|
30335568 |
2019 |
|
Recurrent urinary tract infection
|
|
0.010 |
GeneticVariation
|
BEFREE |
Abbreviations: 3-PEHPC: 3-pyridinyl ethylidene hydroxyl phosphonocarboxylate; ATG: autophagy; ATG16L1: autophagy related 16 like 1; BECs: bladder epithelial cells; dpi: days post infection; hpi: hours post infection; IF: immunofluorescence; IL1B: interleukin 1 beta; IL6: interleukin 6; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; MVB: multivesicular bodies; T300A: Thr300Ala; TNF: tumor necrosis factor; QIR(s): quiescent intracellular reservoir(s); siRNA: short interfering RNA; UPEC: uropathogenic Escherichia coli; UTI(s): urinary tract infection(s); TEM: transmission electron microscopy; WT: wild type.
|
30335568 |
2019 |
|
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 |
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
An association of variants in the genes encoding the interleukin 23 receptor (IL23R, p.Arg381Gln, rs11209026), and the autophagy-related gene 16-like 1 (ATG16L1, p.Ala197Thr, rs2241880) with Crohn disease (CD) was identified by whole genome association studies, and subsequently confirmed by other works.
|
19590455 |
2009 |
|
Crohn Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Antichitobioside was positive in 28% of patients with CD carrying the ATG16L1 A300T variant (either heterozygote or homozygote) compared with only 3% in those without the variant (P < 0.001).
|
30265311 |
2019 |
|
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
|
|
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 |
|
Metastatic malignant neoplasm to brain
|
|
0.010 |
GeneticVariation
|
BEFREE |
ATG10: rs10036653 and ATG16L1: rs2241880 were significantly associated with a decreased risk of BM (respective hazard ratios [HRs]=0.596, 95% confidence interval [CI] 0.398-0.894, P = 0.012; and HR = 0.
|
28441070 |
2017 |
|
Inflammatory Bowel Diseases
|
|
0.070 |
GeneticVariation
|
BEFREE |
ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: further support for significant disease heterogeneity.
|
18671817 |
2008 |
|
Irritable Bowel Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: further support for significant disease heterogeneity.
|
18671817 |
2008 |
|
Malignant neoplasm of stomach
|
|
0.010 |
GeneticVariation
|
BEFREE |
ATG16L1 T300A Polymorphism is Correlated with Gastric Cancer Susceptibility.
|
26547861 |
2016 |
|
Stomach Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
ATG16L1 T300A Polymorphism is Correlated with Gastric Cancer Susceptibility.
|
26547861 |
2016 |
|
Inflammatory Bowel Disease 10
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients.
|
18499543 |
2008 |