TOP2B, DNA topoisomerase II beta, 7155

N. diseases: 58; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 GeneticVariation disease GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease CLINVAR
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 GeneticVariation group BEFREE There was a statistically significant increase in the TOP2B H-index in locally advanced CaP in comparison with localized tumors (p=0.046). 24195515 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.040 GeneticVariation disease BEFREE NUP98 is fused to topoisomerase (DNA) IIbeta 180 kDa (TOP2B) in a patient with acute myeloid leukemia with a new t(3;11)(p24;p15). 16166424 2005
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 GeneticVariation disease BEFREE Furthermore, cardiomyocyte-specific deletion of Top2b protects mice from the development of doxorubicin-induced progressive heart failure, suggesting that doxorubicin-induced cardiotoxicity is mediated by topoisomerase-IIβ in cardiomyocytes. 23104132 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE Top2b deletion leads to malformation of photoreceptor outer segments (OSs) and synapses accompanied by dramatic cell loss at late-stage photoreceptor differentiation. 28370415 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation disease BEFREE Association between the c.*229C>T polymorphism of the topoisomerase IIβ binding protein 1 (TopBP1) gene and breast cancer. 23277395 2013
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 GeneticVariation disease BEFREE Topoisomerase IIβ binding protein 1 c.*229C>T (rs115160714) gene polymorphism and endometrial cancer risk. 24346708 2014
CUI: C0018801
Disease: Heart failure
Heart failure
0.010 GeneticVariation disease BEFREE Furthermore, cardiomyocyte-specific deletion of Top2b protects mice from the development of doxorubicin-induced progressive heart failure, suggesting that doxorubicin-induced cardiotoxicity is mediated by topoisomerase-IIβ in cardiomyocytes. 23104132 2012
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.010 GeneticVariation disease BEFREE While 11 genes (ATP-binding cassette, sub-family G (WHITE), member 2(ABCG2), activating transcription factor (ATF2), beta-2-microglobulin (B2M), deoxycytidine kinase (DCK), occludin (OCLN), v-raf-1 murine leukemia viral oncogene homolog (RAF1), ralA binding protein 1 (RALBP1), splicing factor (45 kD) (SPF45), S-phase kinase-associated protein 2 (p45) (SKP2), tumor protein p53 (Li-Fraumeni syndrome) (TP53) and topoisomerase (DNA) II beta (TOP2B)) maintained the unmethylated patterns, three genes displayed to various extents the hypermethylation state in tumor tissues in comparison with the normal counterparts. 15526362 2004
CUI: C0302142
Disease: Deformity
Deformity
0.010 GeneticVariation group BEFREE Top2b deletion leads to malformation of photoreceptor outer segments (OSs) and synapses accompanied by dramatic cell loss at late-stage photoreceptor differentiation. 28370415 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 GeneticVariation disease BEFREE Topoisomerase IIβ binding protein 1 c.*229C>T (rs115160714) gene polymorphism and endometrial cancer risk. 24346708 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 GeneticVariation disease BEFREE Global developmental delay and intellectual disability associated with a de novo TOP2B mutation. 28343847 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation disease BEFREE Association between the c.*229C>T polymorphism of the topoisomerase IIβ binding protein 1 (TopBP1) gene and breast cancer. 23277395 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.010 GeneticVariation disease BEFREE Therefore, we hypothesized that mutations in TOP2B can cause autosomal-dominant nonsyndromic hearing impairment through inhibition of the PI3K-Akt signalling pathway. 31198993 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 GeneticVariation group BEFREE Global developmental delay and intellectual disability associated with a de novo TOP2B mutation. 28343847 2017
Prostatic Intraepithelial Neoplasias
0.300 Biomarker disease CTD_human Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements. 20601956 2010
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.040 Biomarker disease BEFREE We used cell viability assays, western blotting, and EdU proliferation assay combined with calcein-AM treatment or siRNA interference to investigate the role of topoisomerase IIβ binding protein 1 (TopBP1) and p53 in NSCLC chemotherapy. 28628491 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.040 Biomarker disease BEFREE For investigation of relative differences in mRNA expression levels and of correlations in the expression of genes possibly involved in multidrug resistance (MDR) of acute myelogenous leukemias (AML), a complementary DNA polymerase chain reaction (cDNA-PCR) analysis was established for the genes encoding MDR1/P-glycoprotein, the multidrug resistance-associated protein (MRP), topoisomerase II alpha, topoisomerase II beta, topoisomerase I, glutathione S-transferase pi, protein kinase C (PKC) isozymes alpha, beta 1, beta 2, epsilon, eta, theta and cyclin A. 8642857 1996
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.030 Biomarker disease BEFREE Here, we hypothesize that these transcription-induced, TOP2B-mediated DSBs can also be exploited therapeutically and propose that, in hormone-dependent tumors like breast and prostate cancers, a hormone-cycling therapy, in combination with topoisomerase II poisons or inhibitors of the DNA repair components PARP1 and DNA-PK, could overwhelm cancer cells with transcription-associated DSBs. 21385925 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.030 Biomarker disease BEFREE The results indicate that detection of the TMPRSS2-ERG fusion gene and parallel immunohistochemical examination of AR, TOP2B and ERG has diagnostic significance and may be useful in assessing the biological character of the prostate cancer as well as selecting the best treatment. 24195515 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.030 Biomarker disease BEFREE Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements. 20601956 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 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: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 Biomarker disease BEFREE Besides the most common hypothesis that anthracycline-induced congestive heart failure (CHF) is mainly caused by generation of reactive oxygen species, recent data point to a critical role of topoisomerase II beta (TOP2B), which is a primary target of anthracycline poisoning, in the pathophysiology of CHF. 28102848 2017
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.020 Biomarker disease BEFREE Our results identify a novel mechanism of resistance in APL and provide further insight to the role of TopoIIbeta in gene regulation and differentiation. 18212063 2008