TOP3B, DNA topoisomerase III beta, 8940

N. diseases: 14; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease BEFREE TOP3B encodes a topoisomerase DNA (III) β protein and has been implicated in several neurological diseases such as schizophrenia and autism. 29490292 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease BEFREE We found that the enrichment of a rare chromosome 22q11.22 deletion in a recently expanded Northern Finnish sub-isolate enabled the detection of association between TOP3B and both schizophrenia and cognitive impairment. 23912948 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET We found that the enrichment of a rare chromosome 22q11.22 deletion in a recently expanded Northern Finnish sub-isolate enabled the detection of association between TOP3B and both schizophrenia and cognitive impairment. 23912948 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE TOP3B encodes a topoisomerase DNA (III) β protein and has been implicated in several neurological diseases such as schizophrenia and autism. 29490292 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism. 27880953 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 GeneticVariation disease BEFREE Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism. 27880953 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 Biomarker disease BEFREE We found that the enrichment of a rare chromosome 22q11.22 deletion in a recently expanded Northern Finnish sub-isolate enabled the detection of association between TOP3B and both schizophrenia and cognitive impairment. 23912948 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Our data show that TOP3B is necessary to prevent the accumulation of excessive R-loops and identify TOP3B as a putative cancer gene, and support recent data showing that R-loops are involved in cancer aetiology. 31795919 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.010 GeneticVariation disease BEFREE A homozygous deletion for the TOP3B gene was identified in a patient with bilateral renal cancer. 31795919 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Our data show that TOP3B is necessary to prevent the accumulation of excessive R-loops and identify TOP3B as a putative cancer gene, and support recent data showing that R-loops are involved in cancer aetiology. 31795919 2019
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0.010 GeneticVariation disease BEFREE A homozygous deletion for the TOP3B gene was identified in a patient with bilateral renal cancer. 31795919 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE In this study, we discuss the implication of the 22q11.2 region in neurodevelopmental disorders and the association of TOP3B with epilepsy. 29490292 2018
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.010 Biomarker disease BEFREE TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? 29490292 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE In this study, we discuss the implication of the 22q11.2 region in neurodevelopmental disorders and the association of TOP3B with epilepsy. 29490292 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE Meanwhile, high expression of TOP1MT and TOP3B was not correlated with OS in NSCLC patients. 28355294 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 Biomarker disease BEFREE The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism. 27880953 2016
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.010 GeneticVariation group BEFREE Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism. 27880953 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE Additionally, the expression of topoisomerase III beta, which exhibited a clear pattern of gene reduction by a combination of the two drugs, was significantly increased (5.7-fold) in primary lung cancers but not adjacent tissues. 12941840 2003