ATG2B, autophagy related 2B, 55102

N. diseases: 19; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		0.300 Biomarker disease CTD_human Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies. 26280900 2015
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.300 Biomarker disease CTD_human Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies. 26280900 2015
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.300 Biomarker group CTD_human Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies. 26280900 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 Biomarker disease BEFREE miR-143 may induce bowel inflammation by regulating ATG2B and autophagy, suggesting that miR-143 might play a critical role in the development of CD. 29562274 2018
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.010 Biomarker disease BEFREE Our results suggest that these three genes that are critical components of the autophagy pathway (ATG16L, ATG2B, ATG5) are not significant risk factors among Spanish patients with either XFS or XFG. 27960588 2018
CUI: C0151546
Disease: Oral Cavity Carcinoma
Oral Cavity Carcinoma 		0.010 GeneticVariation disease BEFREE We found an association between the variant in ATG10 rs1864183 and a higher susceptibility to develop laryngeal cancer, ATG2B rs3759601 and pharyngeal cancer and ATG16L1 rs2241880 and oral carcinoma. 28761177 2017
CUI: C0153405
Disease: Malignant neoplasm of pharynx
Malignant neoplasm of pharynx 		0.010 GeneticVariation disease BEFREE We found an association between the variant in ATG10 rs1864183 and a higher susceptibility to develop laryngeal cancer, ATG2B rs3759601 and pharyngeal cancer and ATG16L1 rs2241880 and oral carcinoma. 28761177 2017
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 GeneticVariation disease BEFREE We found an association between the variant in ATG10 rs1864183 and a higher susceptibility to develop laryngeal cancer, ATG2B rs3759601 and pharyngeal cancer and ATG16L1 rs2241880 and oral carcinoma. 28761177 2017
CUI: C0747548
Disease: Pharyngeal Carcinoma
Pharyngeal Carcinoma 		0.010 GeneticVariation disease BEFREE We found an association between the variant in ATG10 rs1864183 and a higher susceptibility to develop laryngeal cancer, ATG2B rs3759601 and pharyngeal cancer and ATG16L1 rs2241880 and oral carcinoma. 28761177 2017
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 GeneticVariation disease BEFREE To investigate the importance of this pathway in HNSCC susceptibility, a risk factor matched case-control association study was performed with four candidate polymorphisms in autophagy genes (ATG2B, ATG5, ATG10, ATG16L1). 28761177 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 GeneticVariation disease BEFREE Common variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed. 26747452 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE In the two gastric epithelial cell lines, mimic mir-30d was found to repress the autophagy process, whereas mir-30d inhibitor increased autophagy response to H. pylori invasion. mir-30d mimic decreased the luciferase activity of wild type reporter plasmids carrying the 3' untranslated region (UTR) of all five tested genes (ATG2B, ATG5, ATG12, BECN1, and BNIP3L), whereas it had no effect on the mutant reporter plasmids. 27099441 2016
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.010 PosttranslationalModification disease BEFREE Aberrant methylation of ATG2B, ATG4D, ATG9A and ATG9B CpG island promoter is associated with decreased mRNA expression in sporadic breast carcinoma. 27265029 2016
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation disease BEFREE Common variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed. 26747452 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies. 26280900 2015
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE These results suggested that ATG2B may be a new potential therapeutic target for NSCLC. 25322940 2015
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 GeneticVariation disease BEFREE Finally, we demonstrate that rs3759601 in ATG2B correlates with progression and recurrence of bladder cancer after BCG intravesical instillation therapy. 25356988 2014
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 GeneticVariation disease BEFREE Finally, we demonstrate that rs3759601 in ATG2B correlates with progression and recurrence of bladder cancer after BCG intravesical instillation therapy. 25356988 2014
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 GeneticVariation disease BEFREE Finally, we demonstrate that rs3759601 in ATG2B correlates with progression and recurrence of bladder cancer after BCG intravesical instillation therapy. 25356988 2014