Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7155
Gene name	DNA topoisomerase II beta
Gene symbol	TOP2B
Synonyms (NCBI Gene)	BILUTOPIIBtop2beta
Chromosome	3
Chromosome location	3p24.2
Summary	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional str

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SNP ID	Visualize variation	Clinical significance	Consequence
rs886039770	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

145

Show/Hide all (145)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029687	hsa-miR-26b-5p	Microarray	19088304
MIRT708527	hsa-miR-3614-3p	HITS-CLIP	19536157
MIRT708526	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT708525	hsa-miR-1248	HITS-CLIP	19536157
MIRT708524	hsa-miR-1290	HITS-CLIP	19536157
MIRT708523	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT708522	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT708521	hsa-miR-450b-3p	HITS-CLIP	19536157
MIRT708520	hsa-miR-769-3p	HITS-CLIP	19536157
MIRT708519	hsa-miR-6728-5p	HITS-CLIP	19536157
MIRT708518	hsa-miR-5089-5p	HITS-CLIP	19536157
MIRT708517	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT708516	hsa-miR-6513-5p	HITS-CLIP	19536157
MIRT708527	hsa-miR-3614-3p	HITS-CLIP	19536157
MIRT708526	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT708525	hsa-miR-1248	HITS-CLIP	19536157
MIRT708524	hsa-miR-1290	HITS-CLIP	19536157
MIRT708523	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT708522	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT708521	hsa-miR-450b-3p	HITS-CLIP	19536157
MIRT708520	hsa-miR-769-3p	HITS-CLIP	19536157
MIRT708519	hsa-miR-6728-5p	HITS-CLIP	19536157
MIRT708518	hsa-miR-5089-5p	HITS-CLIP	19536157
MIRT708517	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT708516	hsa-miR-6513-5p	HITS-CLIP	19536157
MIRT756214	hsa-miR-9-3p	Luciferase reporter assayWestern blottingqRT-PCR	36410793
MIRT756215	hsa-miR-9-5p	Luciferase reporter assayWestern blottingqRT-PCR	36410793
MIRT1447272	hsa-miR-101	CLIP-seq
MIRT1447273	hsa-miR-1253	CLIP-seq
MIRT1447274	hsa-miR-1276	CLIP-seq
MIRT1447275	hsa-miR-1283	CLIP-seq
MIRT1447276	hsa-miR-1324	CLIP-seq
MIRT1447277	hsa-miR-140-3p	CLIP-seq
MIRT1447278	hsa-miR-1537	CLIP-seq
MIRT1447279	hsa-miR-23a	CLIP-seq
MIRT1447280	hsa-miR-23b	CLIP-seq
MIRT1447281	hsa-miR-23c	CLIP-seq
MIRT1447282	hsa-miR-297	CLIP-seq
MIRT1447283	hsa-miR-3145-3p	CLIP-seq
MIRT1447284	hsa-miR-3177-3p	CLIP-seq
MIRT1447285	hsa-miR-3919	CLIP-seq
MIRT1447286	hsa-miR-4251	CLIP-seq
MIRT1447287	hsa-miR-4275	CLIP-seq
MIRT1447288	hsa-miR-4329	CLIP-seq
MIRT1447289	hsa-miR-4511	CLIP-seq
MIRT1447290	hsa-miR-4645-3p	CLIP-seq
MIRT1447291	hsa-miR-4668-3p	CLIP-seq
MIRT1447292	hsa-miR-4698	CLIP-seq
MIRT1447293	hsa-miR-4731-3p	CLIP-seq
MIRT1447294	hsa-miR-4796-5p	CLIP-seq
MIRT1447295	hsa-miR-4801	CLIP-seq
MIRT1447296	hsa-miR-499-3p	CLIP-seq
MIRT1447297	hsa-miR-499a-3p	CLIP-seq
MIRT1447298	hsa-miR-548a-3p	CLIP-seq
MIRT1447299	hsa-miR-548ac	CLIP-seq
MIRT1447300	hsa-miR-548b-3p	CLIP-seq
MIRT1447301	hsa-miR-548d-3p	CLIP-seq
MIRT1447302	hsa-miR-548e	CLIP-seq
MIRT1447303	hsa-miR-548f	CLIP-seq
MIRT1447304	hsa-miR-548g	CLIP-seq
MIRT1447305	hsa-miR-548z	CLIP-seq
MIRT1447306	hsa-miR-567	CLIP-seq
MIRT1447283	hsa-miR-3145-3p	CLIP-seq
MIRT1447296	hsa-miR-499-3p	CLIP-seq
MIRT1447297	hsa-miR-499a-3p	CLIP-seq
MIRT1447272	hsa-miR-101	CLIP-seq
MIRT1447275	hsa-miR-1283	CLIP-seq
MIRT1447276	hsa-miR-1324	CLIP-seq
MIRT1447277	hsa-miR-140-3p	CLIP-seq
MIRT1447278	hsa-miR-1537	CLIP-seq
MIRT1447279	hsa-miR-23a	CLIP-seq
MIRT1447280	hsa-miR-23b	CLIP-seq
MIRT1447281	hsa-miR-23c	CLIP-seq
MIRT1447284	hsa-miR-3177-3p	CLIP-seq
MIRT1447287	hsa-miR-4275	CLIP-seq
MIRT1447290	hsa-miR-4645-3p	CLIP-seq
MIRT1447291	hsa-miR-4668-3p	CLIP-seq
MIRT1447294	hsa-miR-4796-5p	CLIP-seq
MIRT1447296	hsa-miR-499-3p	CLIP-seq
MIRT1447297	hsa-miR-499a-3p	CLIP-seq
MIRT1447299	hsa-miR-548ac	CLIP-seq
MIRT1447301	hsa-miR-548d-3p	CLIP-seq
MIRT1447305	hsa-miR-548z	CLIP-seq
MIRT1447272	hsa-miR-101	CLIP-seq
MIRT1447275	hsa-miR-1283	CLIP-seq
MIRT1447276	hsa-miR-1324	CLIP-seq
MIRT1447279	hsa-miR-23a	CLIP-seq
MIRT1447280	hsa-miR-23b	CLIP-seq
MIRT1447281	hsa-miR-23c	CLIP-seq
MIRT2354872	hsa-miR-3137	CLIP-seq
MIRT1447284	hsa-miR-3177-3p	CLIP-seq
MIRT2354873	hsa-miR-3613-3p	CLIP-seq
MIRT1447287	hsa-miR-4275	CLIP-seq
MIRT1447290	hsa-miR-4645-3p	CLIP-seq
MIRT1447291	hsa-miR-4668-3p	CLIP-seq
MIRT2354874	hsa-miR-4703-3p	CLIP-seq
MIRT1447294	hsa-miR-4796-5p	CLIP-seq
MIRT1447296	hsa-miR-499-3p	CLIP-seq
MIRT1447297	hsa-miR-499a-3p	CLIP-seq
MIRT2354875	hsa-miR-513a-3p	CLIP-seq
MIRT2354876	hsa-miR-579	CLIP-seq
MIRT2354877	hsa-miR-607	CLIP-seq
MIRT1447273	hsa-miR-1253	CLIP-seq
MIRT1447285	hsa-miR-3919	CLIP-seq
MIRT1447293	hsa-miR-4731-3p	CLIP-seq
MIRT1447295	hsa-miR-4801	CLIP-seq
MIRT1447279	hsa-miR-23a	CLIP-seq
MIRT1447280	hsa-miR-23b	CLIP-seq
MIRT1447281	hsa-miR-23c	CLIP-seq
MIRT1447273	hsa-miR-1253	CLIP-seq
MIRT1447274	hsa-miR-1276	CLIP-seq
MIRT2648628	hsa-miR-2113	CLIP-seq
MIRT2648629	hsa-miR-218	CLIP-seq
MIRT1447282	hsa-miR-297	CLIP-seq
MIRT1447283	hsa-miR-3145-3p	CLIP-seq
MIRT1447285	hsa-miR-3919	CLIP-seq
MIRT1447289	hsa-miR-4511	CLIP-seq
MIRT1447293	hsa-miR-4731-3p	CLIP-seq
MIRT1447295	hsa-miR-4801	CLIP-seq
MIRT1447298	hsa-miR-548a-3p	CLIP-seq
MIRT1447300	hsa-miR-548b-3p	CLIP-seq
MIRT1447302	hsa-miR-548e	CLIP-seq
MIRT1447303	hsa-miR-548f	CLIP-seq
MIRT1447304	hsa-miR-548g	CLIP-seq
MIRT1447306	hsa-miR-567	CLIP-seq
MIRT2648630	hsa-miR-653	CLIP-seq
MIRT2648631	hsa-miR-9	CLIP-seq
MIRT1447273	hsa-miR-1253	CLIP-seq
MIRT1447274	hsa-miR-1276	CLIP-seq
MIRT1447282	hsa-miR-297	CLIP-seq
MIRT1447283	hsa-miR-3145-3p	CLIP-seq
MIRT1447284	hsa-miR-3177-3p	CLIP-seq
MIRT1447285	hsa-miR-3919	CLIP-seq
MIRT1447289	hsa-miR-4511	CLIP-seq
MIRT1447291	hsa-miR-4668-3p	CLIP-seq
MIRT1447293	hsa-miR-4731-3p	CLIP-seq
MIRT1447294	hsa-miR-4796-5p	CLIP-seq
MIRT1447295	hsa-miR-4801	CLIP-seq
MIRT1447298	hsa-miR-548a-3p	CLIP-seq
MIRT1447300	hsa-miR-548b-3p	CLIP-seq
MIRT1447302	hsa-miR-548e	CLIP-seq
MIRT1447303	hsa-miR-548f	CLIP-seq
MIRT1447304	hsa-miR-548g	CLIP-seq
MIRT1447306	hsa-miR-567	CLIP-seq
MIRT2648630	hsa-miR-653	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA
GO:0000792	Component	Heterochromatin	IDA	9049244
GO:0000819	Process	Sister chromatid segregation	IBA
GO:0001764	Process	Neuron migration	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	9049244
GO:0003682	Function	Chromatin binding	IEA
GO:0003916	Function	DNA topoisomerase activity	IEA
GO:0003918	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	IBA
GO:0003918	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	IDA	10684600
GO:0003918	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	IEA
GO:0003918	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	IMP	31409799, 32128574
GO:0005515	Function	Protein binding	IPI	10473615, 10666337, 11062478, 11136718, 16611985, 17567603, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9049244, 9155056, 17567603
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	9049244
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	9049244
GO:0005730	Component	Nucleolus	IDA	8299728, 9155056
GO:0005829	Component	Cytosol	IDA	9049244
GO:0006259	Process	DNA metabolic process	IEA
GO:0006265	Process	DNA topological change	IDA	10684600
GO:0006265	Process	DNA topological change	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	IMP	31409799, 32128574
GO:0030900	Process	Forebrain development	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0045870	Process	Positive regulation of single stranded viral RNA replication via double stranded DNA intermediate	IEA
GO:0045870	Process	Positive regulation of single stranded viral RNA replication via double stranded DNA intermediate	IMP	16712776
GO:0046872	Function	Metal ion binding	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0071318	Process	Cellular response to ATP	IEA
GO:0090398	Process	Cellular senescence	IEA
GO:1990904	Component	Ribonucleoprotein complex	ISS
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IEA

MIM	HGNC	e!Ensembl
126431	11990	ENSG00000077097

Q02880

Protein name

DNA topoisomerase 2-beta (EC 5.6.2.2) (DNA topoisomerase II, beta isozyme)

Protein function

Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Pl

PDB

3QX3 , 4G0U , 4G0V , 4G0W , 4J3N , 5GWI , 5GWJ , 5ZAD , 5ZEN , 5ZQF , 5ZRF , 7QFN , 7QFO , 7YQ8 , 7ZBG , 8KE7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02518	HATPase_c	97 → 246	Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase	Domain
PF00204	DNA_gyraseB	287 → 451	DNA gyrase B	Domain
PF01751	Toprim	477 → 592	Toprim domain	Family
PF16898	TOPRIM_C	594 → 732	C-terminal associated domain of TOPRIM	Family
PF00521	DNA_topoisoIV	734 → 1190	DNA gyrase/topoisomerase IV, subunit A	Family
PF08070	DTHCT	1508 → 1610	DTHCT (NUC029) region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the tonsil, spleen, lymph node, thymus, skin, pancreas, testis, colon, kidney, liver, brain and lung (PubMed:9155056). Also found in breast, colon and lung carcinomas, Hodgkin's disease, large-cell non-Hodgkin's lymphoma,

Sequence

MAKSGGCGAGAGVGGGNGALTWVTLFDQNNAAKKEESETANKNDSSKKLSVERVYQKKTQ
LEHILLRPDTYIGSVEPLTQFMWVYDEDVGMNCREVTFVPGLYKIFDEILVNAADNKQRD
KNMTCIKVSIDPESNIISIWNNGKGIPVVEHKVEKVYVPALIFGQLLTSSNYDDDEKKVT
GGRNGYGAKLCNIFSTKFTVETACKEYKHSFKQTWMNNMMKTSEAKIKHFDGEDYTCITF
QPDLSKFKMEKLDKDIVALMTRRAYDLAGSCRGVKVMFNGKKLPVNGFRSYVDLYVKDKL
DETGVALKVIHELANERWDVCLTLSEKGFQQISFVNSIATTKGGRHVDYVVDQVVGKLIE
VVKKKNKAGVSVKPFQVKNHIWVFINCLIENPTFDSQTKENMTLQPKSFGSKCQLSEKFF
KAASNCGIVESILNWVKFKAQTQLNKKCSSVKYSKIKGIPKLDDANDAGGKHSLECTLIL
TEGDSAKSLAVSGLGVIGRDRYGVFPLRGKILNVREASHKQIMENAEINNIIKIVGLQYK
KSYDDAESLKTLRYGKIMIMTDQDQDGSHIKGLLINFIHHNWPSLLKHGFLEEFITPIVK
ASKNKQELSFYSIPEFDEWKKHIENQKAWKIKYYKGLGTSTAKEAKEYFADMERHRILFR
YAGPEDDAAITLAFSKKKIDDRKEWLTNFMEDRRQRRLHGLPEQFLYGTATKHLTYNDFI
NKELILFSNSDNERSIPSLVDGFKPGQRKVLFTCFKRNDKREVKVAQLAGSVAEMSAYHH
GEQALMMTIVNLAQNFVGSNNINLLQPIGQFGTRLHGGKDAASPRYIFTMLSTLARLLFP
AVDDNLLKFLYDDNQRVEPEWYIPIIPMVLINGAEGIGTGWACKLPNYDAREIVNNVRRM
LDGLDPHPMLPNYKNFKGTIQELGQNQYAVSGEIFVVDRNTVEITELPVRTWTQVYKEQV
LEPMLNGTDKTPALISDYKEYHTDTTVKFVVKMTEEKLAQAEAAGLHKVFKLQTTLTCNS
MVLFDHMGCLKKYETVQDILKEFFDLRLSYYGLRKEWLVGMLGAESTKLNNQARFILEKI
QGKITIENRSKKDLIQMLVQRGYESDPVKAWKEAQEKAAEEDETQNQHDDSSSDSGTPSG
PDFNYILNMSLWSLTKEKVEELIKQRDAKGREVNDLKRKSPSDLWKEDLAAFVEELDKVE
SQEREDVLAGMSGKAIKGKVGKPKVKKLQLEETMPSPYGRRIIPEITAMKADASKKLLKK
KKGDLDTAAVKVEFDEEFSGAPVEGAGEEALTPSVPINKGPKPKREKKEPGTRVRKTPTS
SGKPSAKKVKKRNPWSDDESKSESDLEETEPVVIPRDSLLRRAAAERPKYTFDFSEEEDD
DADDDDDDNNDLEELKVKASPITNDGEDEFVPSDGLDKDEYTFSPGKSKATPEKSLHDKK
SQDFGNLFSFPSYSQKSEDDSAKFDSNEEDSASVFSPSFGLKQTDKVPSKTVAAKKGKPS
SDTVPKPKRAPKQKKVVEAVNSDSDSEFGIPKKTTTPKGKGRGAKKRKASGSENEGDYNP
GRKTSKTTSKKPKKTSFDQDSDVDIFPSDFPTEPPSLPRTGRARKEVKYFAESDEEEDDV
DFAMFN

Sequence length

1626

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance		SUMOylation of DNA replication proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs886039770	RCV000256202	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	Pathogenic	rs2125376009, rs2125377904, rs2125377898	RCV001775185 RCV001775186 RCV001775188	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC INTRAEPITHELIAL NEOPLASIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOP2B-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOP2B-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (62)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	18212063, 20200558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	18212063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28355294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28554742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18021738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	36503484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	20200558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31953910, 36450898	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	26612825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome	B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	25794620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23277395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15526362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	26503213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	8398710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25846551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34784933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27315793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28554742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25009397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25009397, 37453058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23104132, 28102848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31953910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24346708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	15241656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30841565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28343847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23104132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28343847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22894901, 38508753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10233413, 23696245, 32218491, 7904487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	18212063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	16932348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16166424, 22627319, 23696245, 8642857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	15526362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10879730, 8398710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23277395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24346708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	8398710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20601956, 21385925, 24195515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26811421, 28669856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28554742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33375771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	16932348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24195515, 25724086, 8547322, 8664122, 9765623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18021738, 20886683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20886683, 35831557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29695291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28355294, 28628491, 8547322, 9765623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	31198993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10070864, 21542140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	11691828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20601956, 24195515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	20601956	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	CTD_human_DG	20601956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20601956, 28055971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	26612825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	9765623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	8980384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	20219416		★★★★★ ★☆☆☆☆ Found in Text Mining only

TOP2B (DNA topoisomerase II beta)