Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.300 Biomarker disease CTD_human Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis. 18006695 2008
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. 21665994 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 Biomarker group BEFREE Topoisomerase IIβ-binding protein 1 (TOPBP1) participates in DNA replication and DNA damage response; however, its role in DNA repair and relevance for human cancer remain unclear. 26811421 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 AlteredExpression group BEFREE The expression levels of TopBP1 and Claspin were increased in the cancer cells that survived radiation therapy. 25216549 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 AlteredExpression group BEFREE The level of TopBP1 mRNA appeared to be lower in poorly differentiated (III grade) hereditary breast cancer in comparison with moderately (II grade) and well-differentiated cancer (I grade) (p < 0.05 and p < 0.001 respectively). 22544570 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 GeneticVariation group BEFREE We found somatic frameshit mutations of the KNTC1 (6.7% GC, 12.1% CRC), ZC3H13 (3.3% GC, 15.2% CRC), CENPH (6.7% GC), TOPBP1 (3.0% CRC), NDCO80 (3.0% CRC), RIF1 (6.7% GC), and NBS1 (3.3% GC, 3.0% CRC) genes in the cancers with MSI-H. Mutations were detected in MSI-H, but not in MSI-L or MSS samples. 21388066 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 Biomarker group BEFREE Although the roles of TopBP1 have been studied mostly in cancer cell lines, its physiological function remains unclear in mice and untransformed cells. 21149450 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 GeneticVariation group BEFREE Thus, TopBP1 mediates mutant p53 gain of function in cancer. 21930790 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 AlteredExpression group BEFREE Thus, a physiological level of TopBP1 is essential for normal G(1)/S transition, but a pathological level of TopBP1 in cancer may perturb p53 function and contribute to an aggressive tumor behavior. 19289498 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 GeneticVariation group BEFREE Over 50% of the genes identified in this screen have putative human homologs, including CHEK2, ERCC4, and TOPBP1, which are already associated with inherited cancer susceptibility. 18245329 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 Biomarker group BEFREE Topoisomerase IIβ-binding protein 1 (TOPBP1) participates in DNA replication and DNA damage response; however, its role in DNA repair and relevance for human cancer remain unclear. 26811421 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 AlteredExpression group BEFREE The expression levels of TopBP1 and Claspin were increased in the cancer cells that survived radiation therapy. 25216549 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 AlteredExpression group BEFREE The level of TopBP1 mRNA appeared to be lower in poorly differentiated (III grade) hereditary breast cancer in comparison with moderately (II grade) and well-differentiated cancer (I grade) (p < 0.05 and p < 0.001 respectively). 22544570 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 Biomarker group BEFREE Although the roles of TopBP1 have been studied mostly in cancer cell lines, its physiological function remains unclear in mice and untransformed cells. 21149450 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation group BEFREE Thus, TopBP1 mediates mutant p53 gain of function in cancer. 21930790 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 AlteredExpression group BEFREE Thus, a physiological level of TopBP1 is essential for normal G(1)/S transition, but a pathological level of TopBP1 in cancer may perturb p53 function and contribute to an aggressive tumor behavior. 19289498 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation group BEFREE Over 50% of the genes identified in this screen have putative human homologs, including CHEK2, ERCC4, and TOPBP1, which are already associated with inherited cancer susceptibility. 18245329 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE We determined that TopBP1 levels are increased in cervical intraepithelial neoplasias as well as cervical carcinomas, consistent with studies in HPV-positive cell lines. 30631149 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE CR-LAAO altered the tumor cell expression of DNA repair genes, with two downregulated (XRCC4 and TOPBP1) and three upregulated (ERCC6, RAD52 and CDKN1) genes. 29738841 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.040 GeneticVariation disease BEFREE (2017) show that a single BRCT domain in TopBP1 binds tightly and specifically to phosphorylated Bloom syndrome helicase (BLM). 28978405 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.040 Biomarker disease BEFREE It was proposed that TopBP1 BRCT5 interacts with Bloom syndrome helicase (BLM) to regulate genome stability through either phospho-Ser304 or phospho-Ser338 of BLM. 28919440 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE The presence of risk allele at rs115160714 TopBP1 determined a higher incidence of nodal metastases (OR = 7.98, 95 % CI: 3.94-16.00, p = 0.001) and higher tumor grade (OR = 6.48, 95 % CI: 0.86-48.01, p = 0.03). 26503213 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.040 Biomarker disease BEFREE The Bloom syndrome helicase BLM and topoisomerase-IIβ-binding protein 1 (TopBP1) are key regulators of genome stability. 25794620 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.040 Biomarker disease BEFREE In this study, we report a specific interaction between TopBP1 and Bloom syndrome helicase (BLM) that is phosphorylation and cell-cycle dependent. 24239288 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE Thus, a physiological level of TopBP1 is essential for normal G(1)/S transition, but a pathological level of TopBP1 in cancer may perturb p53 function and contribute to an aggressive tumor behavior. 19289498 2009