TOPBP1 (DNA topoisomerase II binding protein 1)

Gene

• Entrez ID: 11073
• Gene name: DNA topoisomerase II binding protein 1
• Gene symbol: TOPBP1
• Synonyms (NCBI Gene): Dpb11, TOP2BP1
• Chromosome: 3
• Chromosome location: 3q22.1
• Summary: This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA st

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022523	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024830	hsa-miR-215-5p	Microarray	19074876
MIRT026324	hsa-miR-192-5p	Microarray	19074876
MIRT698129	hsa-miR-181a-5p	HITS-CLIP	23313552
MIRT698127	hsa-miR-181b-5p	HITS-CLIP	23313552
MIRT698126	hsa-miR-181d-5p	HITS-CLIP	23313552
MIRT698125	hsa-miR-181c-5p	HITS-CLIP	23313552
MIRT698124	hsa-miR-4262	HITS-CLIP	23313552
MIRT698123	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT698122	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT698121	hsa-miR-506-5p	HITS-CLIP	23313552
MIRT698120	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT698119	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT698118	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT698117	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT698116	hsa-miR-3155a	HITS-CLIP	23313552
MIRT698115	hsa-miR-3155b	HITS-CLIP	23313552
MIRT698114	hsa-miR-484	HITS-CLIP	23313552
MIRT698113	hsa-miR-4704-3p	HITS-CLIP	23313552
MIRT698112	hsa-miR-130a-5p	HITS-CLIP	23313552
MIRT698111	hsa-miR-23a-3p	HITS-CLIP	23313552
MIRT698110	hsa-miR-23b-3p	HITS-CLIP	23313552
MIRT698109	hsa-miR-23c	HITS-CLIP	23313552
MIRT439401	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT439401	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT698129	hsa-miR-181a-5p	HITS-CLIP	23313552
MIRT698127	hsa-miR-181b-5p	HITS-CLIP	23313552
MIRT698126	hsa-miR-181d-5p	HITS-CLIP	23313552
MIRT698125	hsa-miR-181c-5p	HITS-CLIP	23313552
MIRT698124	hsa-miR-4262	HITS-CLIP	23313552
MIRT698123	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT698122	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT698121	hsa-miR-506-5p	HITS-CLIP	23313552
MIRT698120	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT698119	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT698118	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT698117	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT698116	hsa-miR-3155a	HITS-CLIP	23313552
MIRT698115	hsa-miR-3155b	HITS-CLIP	23313552
MIRT698114	hsa-miR-484	HITS-CLIP	23313552
MIRT698113	hsa-miR-4704-3p	HITS-CLIP	23313552
MIRT698112	hsa-miR-130a-5p	HITS-CLIP	23313552
MIRT698111	hsa-miR-23a-3p	HITS-CLIP	23313552
MIRT698110	hsa-miR-23b-3p	HITS-CLIP	23313552
MIRT698109	hsa-miR-23c	HITS-CLIP	23313552
MIRT1447341	hsa-miR-124	CLIP-seq
MIRT1447342	hsa-miR-1253	CLIP-seq
MIRT1447343	hsa-miR-125a-3p	CLIP-seq
MIRT1447344	hsa-miR-1273g	CLIP-seq
MIRT1447345	hsa-miR-1323	CLIP-seq
MIRT1447346	hsa-miR-218	CLIP-seq
MIRT1447347	hsa-miR-299-5p	CLIP-seq
MIRT1447348	hsa-miR-3120-3p	CLIP-seq
MIRT1447349	hsa-miR-3150b-3p	CLIP-seq
MIRT1447350	hsa-miR-3154	CLIP-seq
MIRT1447351	hsa-miR-3155	CLIP-seq
MIRT1447352	hsa-miR-3166	CLIP-seq
MIRT1447353	hsa-miR-3200-3p	CLIP-seq
MIRT1447354	hsa-miR-3653	CLIP-seq
MIRT1447355	hsa-miR-3658	CLIP-seq
MIRT1447356	hsa-miR-3662	CLIP-seq
MIRT1447357	hsa-miR-3664-5p	CLIP-seq
MIRT1447358	hsa-miR-3692	CLIP-seq
MIRT1447359	hsa-miR-3714	CLIP-seq
MIRT1447360	hsa-miR-3910	CLIP-seq
MIRT1447361	hsa-miR-3934	CLIP-seq
MIRT1447362	hsa-miR-4270	CLIP-seq
MIRT1447363	hsa-miR-4276	CLIP-seq
MIRT1447364	hsa-miR-4282	CLIP-seq
MIRT1447365	hsa-miR-4422	CLIP-seq
MIRT1447366	hsa-miR-4436b-5p	CLIP-seq
MIRT1447367	hsa-miR-4441	CLIP-seq
MIRT1447368	hsa-miR-4477a	CLIP-seq
MIRT1447369	hsa-miR-4528	CLIP-seq
MIRT1447370	hsa-miR-4639-5p	CLIP-seq
MIRT1447371	hsa-miR-4668-3p	CLIP-seq
MIRT1447372	hsa-miR-4668-5p	CLIP-seq
MIRT1447373	hsa-miR-4689	CLIP-seq
MIRT1447374	hsa-miR-4710	CLIP-seq
MIRT1447375	hsa-miR-4714-5p	CLIP-seq
MIRT1447376	hsa-miR-4724-3p	CLIP-seq
MIRT1447377	hsa-miR-4784	CLIP-seq
MIRT1447378	hsa-miR-4792	CLIP-seq
MIRT1447379	hsa-miR-499a-5p	CLIP-seq
MIRT1447380	hsa-miR-506	CLIP-seq
MIRT1447381	hsa-miR-513a-3p	CLIP-seq
MIRT1447382	hsa-miR-522	CLIP-seq
MIRT1447383	hsa-miR-548c-3p	CLIP-seq
MIRT1447384	hsa-miR-548o	CLIP-seq
MIRT1447385	hsa-miR-548p	CLIP-seq
MIRT1447386	hsa-miR-570	CLIP-seq
MIRT1447387	hsa-miR-577	CLIP-seq
MIRT1447388	hsa-miR-583	CLIP-seq
MIRT1447389	hsa-miR-764	CLIP-seq
MIRT1447390	hsa-miR-885-5p	CLIP-seq
MIRT1447391	hsa-miR-889	CLIP-seq
MIRT1447343	hsa-miR-125a-3p	CLIP-seq
MIRT1447345	hsa-miR-1323	CLIP-seq
MIRT2133765	hsa-miR-23a	CLIP-seq
MIRT2133766	hsa-miR-23b	CLIP-seq
MIRT1447349	hsa-miR-3150b-3p	CLIP-seq
MIRT2133767	hsa-miR-3691-3p	CLIP-seq
MIRT1447361	hsa-miR-3934	CLIP-seq
MIRT1447363	hsa-miR-4276	CLIP-seq
MIRT2133768	hsa-miR-450a	CLIP-seq
MIRT1447373	hsa-miR-4689	CLIP-seq
MIRT1447377	hsa-miR-4784	CLIP-seq
MIRT1447384	hsa-miR-548o	CLIP-seq
MIRT1447389	hsa-miR-764	CLIP-seq
MIRT1447343	hsa-miR-125a-3p	CLIP-seq
MIRT1447345	hsa-miR-1323	CLIP-seq
MIRT2354897	hsa-miR-181a	CLIP-seq
MIRT2354898	hsa-miR-181b	CLIP-seq
MIRT2354899	hsa-miR-181c	CLIP-seq
MIRT2354900	hsa-miR-181d	CLIP-seq
MIRT2133765	hsa-miR-23a	CLIP-seq
MIRT2133766	hsa-miR-23b	CLIP-seq
MIRT2354901	hsa-miR-2681	CLIP-seq
MIRT2354902	hsa-miR-3145-3p	CLIP-seq
MIRT1447351	hsa-miR-3155	CLIP-seq
MIRT1447361	hsa-miR-3934	CLIP-seq
MIRT2354903	hsa-miR-3942-3p	CLIP-seq
MIRT2354904	hsa-miR-4699-3p	CLIP-seq
MIRT2354905	hsa-miR-490-5p	CLIP-seq
MIRT1447384	hsa-miR-548o	CLIP-seq
MIRT2354906	hsa-miR-548v	CLIP-seq
MIRT1447389	hsa-miR-764	CLIP-seq
MIRT1447341	hsa-miR-124	CLIP-seq
MIRT1447352	hsa-miR-3166	CLIP-seq
MIRT1447359	hsa-miR-3714	CLIP-seq
MIRT1447360	hsa-miR-3910	CLIP-seq
MIRT1447365	hsa-miR-4422	CLIP-seq
MIRT1447371	hsa-miR-4668-3p	CLIP-seq
MIRT1447380	hsa-miR-506	CLIP-seq
MIRT1447385	hsa-miR-548p	CLIP-seq
MIRT1447390	hsa-miR-885-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F4	Repression	15195143

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	IDA	21482717, 21777809
GO:0000077	Process	DNA damage checkpoint signaling	IDA	21777809
GO:0000077	Process	DNA damage checkpoint signaling	IDA	17575048, 21777809, 31135337
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	18417535
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	26811421, 35597237
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12773567, 17006541, 17887956, 17913746, 18923429, 20080954, 21659603, 25602520, 35121901, 35842428, 37165191, 37316668
GO:0005515	Function	Protein binding	TAS	9461304
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	22369660
GO:0005634	Component	Nucleus	TAS	9461304
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA	35121901, 35842428, 37165191, 37316668
GO:0005694	Component	Chromosome	IDA	21659603
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006259	Process	DNA metabolic process	TAS	9461304
GO:0006270	Process	DNA replication initiation	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	NAS	12773567, 22369660
GO:0006302	Process	Double-strand break repair	IDA	11390642
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IDA	12773567, 30898438, 35842428, 37165191, 37316668
GO:0006974	Process	DNA damage response	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IBA
GO:0010212	Process	Response to ionizing radiation	IDA	12773567
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016604	Component	Nuclear body	IDA
GO:0016605	Component	PML body	IDA	12773567
GO:0033314	Process	Mitotic DNA replication checkpoint signaling	IBA
GO:0035825	Process	Homologous recombination	NAS	22369660
GO:0035861	Component	Site of double-strand break	IDA	26811421, 30898438, 31135337, 35597237, 37674080
GO:0042802	Function	Identical protein binding	IPI	17006541
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	21777809
GO:0051276	Process	Chromosome organization	IDA	35121901, 35842428, 37165191, 37316668
GO:0070532	Component	BRCA1-B complex	IPI	16391231
GO:0090734	Component	Site of DNA damage	IDA	21777809
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IDA	31135337
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	IDA	37440612
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	IDA	37674080
GO:0140031	Function	Phosphorylation-dependent protein binding	IDA	17575048, 20545769, 21482717, 21777809, 23891287, 26811421, 30898438, 31135337, 35597237, 37674080
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	17575048, 20545769, 21777809, 26811421, 30898438, 31135337, 35597237, 37674080
GO:0141112	Process	Broken chromosome clustering	IDA	37165191, 37316668
GO:1990166	Process	Protein localization to site of double-strand break	IDA	26811421, 37674080

Other IDs

• MIM: 607760
• HGNC: 17008
• e!Ensembl: ENSG00000163781

Protein

• UniProt ID: Q92547
• Protein name: DNA topoisomerase 2-binding protein 1 (DNA topoisomerase II-beta-binding protein 1) (TopBP1) (DNA topoisomerase II-binding protein 1)
• Protein function: Scaffold protein that acts as a key protein-protein adapter in DNA replication and DNA repair (PubMed:10498869, PubMed:11395493, PubMed:11714696, PubMed:17575048, PubMed:20545769, PubMed:21777809, PubMed:26811421, PubMed:30898438, PubMed:3113533
• PDB: 1WF6, 2XNH, 2XNK, 3AL2, 3AL3, 3JVE, 3OLC, 3PD7, 3UEN, 3UEO, 6RML, 6RMM, 7CMZ, 8OK2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00533	BRCT	102 → 176	BRCA1 C Terminus (BRCT) domain	Family
  PF00533	BRCT	195 → 271	BRCA1 C Terminus (BRCT) domain	Family
  PF00533	BRCT	354 → 431	BRCA1 C Terminus (BRCT) domain	Family
  PF00533	BRCT	641 → 724	BRCA1 C Terminus (BRCT) domain	Family
  PF00533	BRCT	900 → 978	BRCA1 C Terminus (BRCT) domain	Family
  PF00533	BRCT	1260 → 1338	BRCA1 C Terminus (BRCT) domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, brain, placenta, lung and kidney. {ECO:0000269|PubMed:9461304}.
• Sequence:

  MSRNDKEPFFVKFLKSSDNSKCFFKALESIKEFQSEEYLQIITEEEALKIKENDRSLYIC
  DPFSGVVFDHLKKLGCRIVGPQVVIFCMHHQRCVPRAEHPVYNMVMSDVTISCTSLEKEK
  REEVHKYVQMMGGRVYRDLNVSVTHLIAGEVGSKKYLVAANLKKPILLPSWIKTLWEKSQ
  EKKITRYTDINMEDFKCPIFLGCIICVTGLCGLDRKEVQQLTVKHGGQYMGQLKMNECTH
  LIVQEPKGQKYECAKRWNVHCVTTQWFFDSIEKGFCQDESIYKTEPRPEAKTMPNSSTPT
  SQINTIDSRTLSDVSNISNINASCVSESICNSLNSKLEPTLENLENLDVSAFQAPEDLLD
  GCRIYLCGFSGRKLDKLRRLINSGGGVRFNQLNEDVTHVIVGDYDDELKQFWNKSAHRPH
  VVGAKWLLECFSKGYMLSEEPYIHANYQPVEIPVSHKPESKAALLKKKNSSFSKKDFAPS
  EKHEQADEDLLSQYENGSSTVVEAKTSEARPFNDSTHAEPLNDSTHISLQEENQSSVSHC
  VPDVSTITEEGLFSQKSFLVLGFSNENESNIANIIKENAGKIMSLLSRTVADYAVVPLLG
  CEVEATVGEVVTNTWLVTCIDYQTLFDPKSNPLFTPVPVMTGMTPLEDCVISFSQCAGAE
  KESLTFLANLLGASVQEYFVRKSNAKKGMFASTHLILKERGGSKYEAAKKWNLPAVTIAW
  LLETARTGKRADESHFLIENSTKEERSLETEITNGINLNSDTAEHPGTRLQTHRKTVVTP
  LDMNRFQSKAFRAVVSQHARQVAASPAVGQPLQKEPSLHLDTPSKFLSKDKLFKPSFDVK
  DALAALETPGRPSQQKRKPSTPLSEVIVKNLQLALANSSRNAVALSASPQLKEAQSEKEE
  APKPLHKVVVCVSKKLSKKQSELNGIAASLGADYRWSFDETVTHFIYQGRPNDTNREYKS
  VKERGVHIVSEHWLLDCAQECKHLPESLYPHTYNPKMSLDISAVQDGRLCNSRLLSAVSS
  TKDDEPDPLILEENDVDNMATNNKESAPSNGSGKNDSKGVLTQTLEMRENFQKQLQEIMS
  ATSIVKPQGQRTSLSRSGCNSASSTPDSTRSARSGRSRVLEALRQSRQTVPDVNTEPSQN
  EQIIWDDPTAREERARLASNLQWPSCPTQYSELQVDIQNLEDSPFQKPLHDSEIAKQAVC
  DPGNIRVTEAPKHPISEELETPIKDSHLIPTPQAPSIAFPLANPPVAPHPREKIITIEET
  HEELKKQYIFQLSSLNPQERIDYCHLIEKLGGLVIEKQCFDPTCTHIVVGHPLRNEKYLA
  SVAAGKWVLHRSYLEACRTAGHFVQEEDYEWGSSSILDVLTGINVQQRRLALAAMRWRKK
  IQQRQESGIVEGAFSGWKVILHVDQSREAGFKRLLQSGGAKVLPGHSVPLFKEATHLFSD
  LNKLKPDDSGVNIAEAAAQNVYCLRTEYIADYLMQESPPHVENYCLPEAISFIQNNKELG
  TGLSQKRKAPTEKNKIKRPRVH

• Sequence length: 1522

Pathways

KEGG:

Homologous recombination

Reactome:

HDR through Single Strand Annealing (SSA)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TOPBP1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	25301947	Associate	★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	23277395	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	24239288, 25794620, 28919440, 28978405		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	35119917	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	22544570		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22544570, 23277395		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21108795, 21799032, 22544570, 23277395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29028101	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30631149		★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	22544570	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	26503213		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25216549		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16930991		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CTD_human_DG	18006695		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21388066, 21811255		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21811255, 28573382	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	25794620, 28228534		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	22544570		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	22544570		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	29028101		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24346708		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24346708	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	24346708	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	16930991		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24702692		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	24702692		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26503213	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	29028101		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	29028101	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22544570, 23277395		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24346708		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	26503213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25216549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16930991		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23908141		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18245329, 19289498, 21149450, 21388066, 21930790, 22544570, 25216549, 26811421		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19289498		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	29028101	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19289498, 26503213, 29738841, 30631149		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28628491		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	29028101		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29028101		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29028101	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16930991		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26811421	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23908141		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23908141	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	11691828		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32459662	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34199176	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinoblastoma	Retinoblastoma	BEFREE	27940962		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29028101		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	36171622	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36171622	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34199176	Associate	★☆☆☆☆ Found in Text Mining only