UHRF1 (ubiquitin like with PHD and ring finger domains 1)

Gene

• Entrez ID: 29128
• Gene name: Ubiquitin like with PHD and ring finger domains 1
• Gene symbol: UHRF1
• Synonyms (NCBI Gene): ICBP90, Np95, RNF106, TDRD22, hNP95, hUHRF1, huNp95
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001580	hsa-let-7b-5p	pSILAC	18668040
MIRT001324	hsa-miR-1-3p	pSILAC	18668040
MIRT002574	hsa-miR-124-3p	Microarray	15685193
MIRT002574	hsa-miR-124-3p	Microarray;Other	15685193
MIRT001324	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT025268	hsa-miR-34a-5p	Proteomics	21566225
MIRT025268	hsa-miR-34a-5p	Proteomics	21566225
MIRT025268	hsa-miR-34a-5p	Proteomics	21566225
MIRT025644	hsa-miR-7-5p	Microarray	19073608
MIRT001580	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT052615	hsa-let-7a-5p	CLASH	23622248
MIRT047656	hsa-miR-10a-5p	CLASH	23622248
MIRT047494	hsa-miR-10b-5p	CLASH	23622248
MIRT025268	hsa-miR-34a-5p	CLASH	23622248
MIRT046925	hsa-miR-221-3p	CLASH	23622248
MIRT045790	hsa-miR-191-5p	CLASH	23622248
MIRT039881	hsa-miR-615-3p	CLASH	23622248
MIRT039881	hsa-miR-615-3p	CLASH	23622248
MIRT021236	hsa-miR-146a-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, Western blot	23982143
MIRT021236	hsa-miR-146a-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, Western blot	23982143
MIRT053567	hsa-miR-146b-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, Western blot	23982143
MIRT053567	hsa-miR-146b-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, Western blot	23982143
MIRT052615	hsa-let-7a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26049093
MIRT002574	hsa-miR-124-3p	Luciferase reporter assay, Western blot	26310391
MIRT002574	hsa-miR-124-3p	Luciferase reporter assay, Western blot	26310391
MIRT001580	hsa-let-7b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31873045
MIRT756026	hsa-miR-520d-3p	Luciferase reporter assay, Western blotting, qRT-PCR, ChIP-seq	35664070
MIRT1474167	hsa-miR-101	CLIP-seq
MIRT1474168	hsa-miR-1263	CLIP-seq
MIRT1474169	hsa-miR-1283	CLIP-seq
MIRT1474170	hsa-miR-1305	CLIP-seq
MIRT1474171	hsa-miR-144	CLIP-seq
MIRT1474172	hsa-miR-148a	CLIP-seq
MIRT1474173	hsa-miR-148b	CLIP-seq
MIRT1474174	hsa-miR-152	CLIP-seq
MIRT1474175	hsa-miR-3133	CLIP-seq
MIRT1474176	hsa-miR-4301	CLIP-seq
MIRT1474177	hsa-miR-4307	CLIP-seq
MIRT1474178	hsa-miR-4511	CLIP-seq
MIRT1474179	hsa-miR-548b-3p	CLIP-seq
MIRT1474180	hsa-miR-578	CLIP-seq
MIRT1474181	hsa-miR-606	CLIP-seq
MIRT1474182	hsa-miR-607	CLIP-seq
MIRT1474183	hsa-let-7a	CLIP-seq
MIRT1474184	hsa-let-7b	CLIP-seq
MIRT1474185	hsa-let-7c	CLIP-seq
MIRT1474186	hsa-let-7d	CLIP-seq
MIRT1474187	hsa-let-7e	CLIP-seq
MIRT1474188	hsa-let-7f	CLIP-seq
MIRT1474189	hsa-let-7g	CLIP-seq
MIRT1474190	hsa-let-7i	CLIP-seq
MIRT1474191	hsa-miR-1243	CLIP-seq
MIRT1474192	hsa-miR-1275	CLIP-seq
MIRT1474193	hsa-miR-1278	CLIP-seq
MIRT1474194	hsa-miR-1292	CLIP-seq
MIRT1474195	hsa-miR-1304	CLIP-seq
MIRT1474170	hsa-miR-1305	CLIP-seq
MIRT1474196	hsa-miR-135a	CLIP-seq
MIRT1474197	hsa-miR-135b	CLIP-seq
MIRT1474198	hsa-miR-1827	CLIP-seq
MIRT1474199	hsa-miR-188-5p	CLIP-seq
MIRT1474200	hsa-miR-200b	CLIP-seq
MIRT1474201	hsa-miR-200c	CLIP-seq
MIRT1474202	hsa-miR-202	CLIP-seq
MIRT1474203	hsa-miR-2909	CLIP-seq
MIRT1474204	hsa-miR-3119	CLIP-seq
MIRT1474175	hsa-miR-3133	CLIP-seq
MIRT1474205	hsa-miR-3162-5p	CLIP-seq
MIRT1474206	hsa-miR-323-3p	CLIP-seq
MIRT1474207	hsa-miR-339-5p	CLIP-seq
MIRT1474208	hsa-miR-3545-3p	CLIP-seq
MIRT1474209	hsa-miR-3646	CLIP-seq
MIRT1474210	hsa-miR-3654	CLIP-seq
MIRT1474211	hsa-miR-371-5p	CLIP-seq
MIRT1474212	hsa-miR-374c	CLIP-seq
MIRT1474213	hsa-miR-378	CLIP-seq
MIRT1474214	hsa-miR-378b	CLIP-seq
MIRT1474215	hsa-miR-378c	CLIP-seq
MIRT1474216	hsa-miR-378d	CLIP-seq
MIRT1474217	hsa-miR-378e	CLIP-seq
MIRT1474218	hsa-miR-378f	CLIP-seq
MIRT1474219	hsa-miR-378h	CLIP-seq
MIRT1474220	hsa-miR-378i	CLIP-seq
MIRT1474221	hsa-miR-3929	CLIP-seq
MIRT1474222	hsa-miR-3973	CLIP-seq
MIRT1474223	hsa-miR-422a	CLIP-seq
MIRT1474224	hsa-miR-4251	CLIP-seq
MIRT1474225	hsa-miR-4261	CLIP-seq
MIRT1474226	hsa-miR-4274	CLIP-seq
MIRT1474227	hsa-miR-4282	CLIP-seq
MIRT1474228	hsa-miR-429	CLIP-seq
MIRT1474229	hsa-miR-4299	CLIP-seq
MIRT1474177	hsa-miR-4307	CLIP-seq
MIRT1474230	hsa-miR-4419b	CLIP-seq
MIRT1474231	hsa-miR-4447	CLIP-seq
MIRT1474232	hsa-miR-4456	CLIP-seq
MIRT1474233	hsa-miR-4458	CLIP-seq
MIRT1474234	hsa-miR-4461	CLIP-seq
MIRT1474235	hsa-miR-4464	CLIP-seq
MIRT1474236	hsa-miR-4472	CLIP-seq
MIRT1474237	hsa-miR-4478	CLIP-seq
MIRT1474238	hsa-miR-4496	CLIP-seq
MIRT1474239	hsa-miR-4500	CLIP-seq
MIRT1474240	hsa-miR-4501	CLIP-seq
MIRT1474178	hsa-miR-4511	CLIP-seq
MIRT1474241	hsa-miR-4525	CLIP-seq
MIRT1474242	hsa-miR-4638-3p	CLIP-seq
MIRT1474243	hsa-miR-4665-5p	CLIP-seq
MIRT1474244	hsa-miR-4668-3p	CLIP-seq
MIRT1474245	hsa-miR-4723-5p	CLIP-seq
MIRT1474246	hsa-miR-4731-3p	CLIP-seq
MIRT1474247	hsa-miR-4748	CLIP-seq
MIRT1474248	hsa-miR-4801	CLIP-seq
MIRT1474249	hsa-miR-541	CLIP-seq
MIRT1474250	hsa-miR-548k	CLIP-seq
MIRT1474251	hsa-miR-548q	CLIP-seq
MIRT1474252	hsa-miR-553	CLIP-seq
MIRT1474253	hsa-miR-580	CLIP-seq
MIRT1474182	hsa-miR-607	CLIP-seq
MIRT1474254	hsa-miR-622	CLIP-seq
MIRT1474255	hsa-miR-625	CLIP-seq
MIRT1474256	hsa-miR-654-5p	CLIP-seq
MIRT1474257	hsa-miR-655	CLIP-seq
MIRT1474258	hsa-miR-7	CLIP-seq
MIRT1474259	hsa-miR-873	CLIP-seq
MIRT1474260	hsa-miR-9	CLIP-seq
MIRT1474261	hsa-miR-98	CLIP-seq
MIRT1474172	hsa-miR-148a	CLIP-seq
MIRT1474173	hsa-miR-148b	CLIP-seq
MIRT1474174	hsa-miR-152	CLIP-seq
MIRT1474204	hsa-miR-3119	CLIP-seq
MIRT1474206	hsa-miR-323-3p	CLIP-seq
MIRT1474212	hsa-miR-374c	CLIP-seq
MIRT2142725	hsa-miR-4662a-5p	CLIP-seq
MIRT2142726	hsa-miR-4676-5p	CLIP-seq
MIRT2142727	hsa-miR-548c-3p	CLIP-seq
MIRT2142728	hsa-miR-575	CLIP-seq
MIRT1474257	hsa-miR-655	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	12838312;15361834
E2F1	Unknown	23023523
TP53	Repression	18220474;19501055

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	21777816
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	TAS	33939809
GO:0000785	Component	Chromatin	IDA	17673620
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISS
GO:0000791	Component	Euchromatin	IDA	21777816
GO:0000792	Component	Heterochromatin	IDA	17967883, 21489993, 21777816
GO:0000792	Component	Heterochromatin	IEA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	10646863
GO:0003676	Function	Nucleic acid binding	EXP	18772889
GO:0003677	Function	DNA binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17967883, 21745816, 22945642
GO:0005515	Function	Protein binding	IPI	15361834, 17673620, 17934516, 19798101, 21745816, 22945642, 32051553
GO:0005634	Component	Nucleus	IDA	10646863
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005657	Component	Replication fork	IDA	17673620
GO:0005657	Component	Replication fork	IEA
GO:0005819	Component	Spindle	IC	37728657
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	22945642
GO:0006950	Process	Response to stress	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	TAS	33939809
GO:0008270	Function	Zinc ion binding	IDA	21777816
GO:0008270	Function	Zinc ion binding	IEA
GO:0008327	Function	Methyl-CpG binding	IDA	15361834, 21029866
GO:0016363	Component	Nuclear matrix	IEA
GO:0016363	Component	Nuclear matrix	ISS
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031507	Process	Heterochromatin formation	IDA	17967883
GO:0035825	Process	Homologous recombination	TAS	33939809
GO:0040029	Process	Epigenetic regulation of gene expression	TAS	33939809
GO:0042393	Function	Histone binding	IDA	21777816
GO:0042393	Function	Histone binding	IEA
GO:0042393	Function	Histone binding	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IBA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IMP	17673620
GO:0044729	Function	Hemi-methylated DNA-binding	IDA	17673620
GO:0044729	Function	Hemi-methylated DNA-binding	IEA
GO:0044729	Function	Hemi-methylated DNA-binding	TAS	33939809
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10646863
GO:0046872	Function	Metal ion binding	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IMP	15361834
GO:0051247	Process	Positive regulation of protein metabolic process	IDA	10646863
GO:0051865	Process	Protein autoubiquitination	IDA	21745816
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	37728657
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	ISS
GO:0062072	Function	Histone H3K9me2/3 reader activity	IDA	17967883, 21029866, 21489993
GO:0062072	Function	Histone H3K9me2/3 reader activity	IEA
GO:0062072	Function	Histone H3K9me2/3 reader activity	TAS	33939809
GO:0090307	Process	Mitotic spindle assembly	IDA	19001501, 37728657
GO:0090307	Process	Mitotic spindle assembly	IDA	37728657
GO:0140612	Function	DNA damage sensor activity	TAS	33939809
GO:0141055	Function	Histone H3 ubiquitin ligase activity	IEA
GO:0141055	Function	Histone H3 ubiquitin ligase activity	ISS

Other IDs

• MIM: 607990
• HGNC: 12556
• e!Ensembl: ENSG00000276043

Protein

• UniProt ID: Q96T88
• Protein name: E3 ubiquitin-protein ligase UHRF1 (EC 2.3.2.27) (Inverted CCAAT box-binding protein of 90 kDa) (Nuclear protein 95) (Nuclear zinc finger protein Np95) (HuNp95) (hNp95) (RING finger protein 106) (RING-type E3 ubiquitin transferase UHRF1) (Transcription fac
• Protein function: Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase
• PDB: 2FAZ, 2L3R, 2LGG, 2LGK, 2LGL, 2PB7, 3ASK, 3ASL, 3BI7, 3CLZ, 3DB3, 3DB4, 3DWH, 3FL2, 3SHB, 3SOU, 3SOW, 3SOX, 3T6R, 3ZVY, 3ZVZ, 4GY5, 4QQD, 5C6D, 5IAY, 5XPI, 5YY9, 5YYA, 6B9M, 6IIW, 6VCS, 6VED, 6VYJ, 6W92, 7FB7, 8JIG, 8WMS, 8XV4, 8XV6, 8XV7, 8XV8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00240	ubiquitin	3 → 76	Ubiquitin family	Domain
  PF12148	TTD	132 → 284	Tandem tudor domain within UHRF1	Domain
  PF00628	PHD	317 → 366	PHD-finger	Domain
  PF02182	SAD_SRA	417 → 586	SAD/SRA domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thymus, bone marrow, testis, lung and heart. Overexpressed in breast cancer. {ECO:0000269|PubMed:10646863, ECO:0000269|PubMed:12838312, ECO:0000269|PubMed:15361834}.
• Sequence:

  MWIQVRTMDGRQTHTVDSLSRLTKVEELRRKIQELFHVEPGLQRLFYRGKQMEDGHTLFD
  YEVRLNDTIQLLVRQSLVLPHSTKERDSELSDTDSGCCLGQSESDKSSTHGEAAAETDSR
  PADEDMWDETELGLYKVNEYVDARDTNMGAWFEAQVVRVTRKAPSRDEPCSSTSRPALEE
  DVIYHVKYDDYPENGVVQMNSRDVRARARTIIKWQDLEVGQVVMLNYNPDNPKERGFWYD
  AEISRKRETRTARELYANVVLGDDSLNDCRIIFVDEVFKIERPGEGSPMVDNPMRRKSGP
  SCKHCKDDVNRLCRVCACHLCGGRQDPDKQLMCDECDMAFHIYCLDPPLSSVPSEDEWYC
  PECRNDASEVVLAGERLRESKKKAKMASATSSSQRDWGKGMACVGRTKECTIVPSNHYGP
  IPGIPVGTMWRFRVQVSESGVHRPHVAGIHGRSNDGAYSLVLAGGYEDDVDHGNFFTYTG
  SGGRDLSGNKRTAEQSCDQKLTNTNRALALNCFAPINDQEGAEAKDWRSGKPVRVVRNVK
  GGKNSKYAPAEGNRYDGIYKVVKYWPEKGKSGFLVWRYLLRRDDDEPGPWTKEGKDRIKK
  LGLTMQYPEGYLEALANREREKENSKREEEEQQEGGFASPRTGKGKWKRKSAGGGPSRAG
  SPRRTSKKTKVEPYSLTAQQSSLIREDKSNAKLWNEVLASLKDRPASGSPFQLFLSKVEE
  TFQCICCQELVFRPITTVCQHNVCKDCLDRSFRAQVFSCPACRYDLGRSYAMQVNQPLQT
  VLNQLFPGYGNGR

• Sequence length: 793

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
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICF SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20026309, 20807569		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	25889361		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21351083, 31503425		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20026309		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27449774, 28901497		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36646969	Inhibit	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29558369		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	30174788		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29558369		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26752645	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25550546		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	40579780	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19491893, 25272010, 25323766, 26310391, 27072587		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16886595, 21539450, 22205202, 22552622, 23107467, 28744404, 29562800		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23107467, 36591654, 37958803	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	32424339	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23677994, 24637615, 25272010, 25940709, 26497117, 26768845, 32495469, 35403252, 38556072	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24005809		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26464697, 28584306, 31442209, 37380646	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19491893, 25272010, 25323766, 26310391, 27072587, 28128913		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21351083, 28849055		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26497117, 35403252	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27487138, 31422942, 37671388	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28849055	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32495469	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	28128913	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26070868		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19270723, 29157076		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19270723, 29157076		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20026309		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27449774, 28901497		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31611260		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22219067, 23023523, 26768845, 30956060		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26768845	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22219067, 22286757, 23023523, 25940709, 30956060, 31545467		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24324066, 25940709, 26768845, 28241740, 31064417, 35211429, 35951156, 37671388	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35951156	Stimulate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26102039, 27487138, 31043707		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37887281	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26597461		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27507047	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	26884069		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28285359		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	25801034, 25818288		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	25801034	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	25801034, 25818288		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24756644		★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	25349215		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20613874, 25550546		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20613874, 25550546		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20613874		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29285183		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29507645		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	29507645, 38285887	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23107467	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28584306	Inhibit	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	25818288		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	31802345	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31611260		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30989656		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19491893	Stimulate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	24005809		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25765655		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25765655, 36302855	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	36302855	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25996682, 30480765, 36302855	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24486181, 25430639, 25641194, 26548607, 28060737, 28584306, 30014490, 30309512		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25430639		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20517312, 21351083, 28849055	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36075396	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23107467	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	20026309		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28901428		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28901428	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16886595, 21539450, 22205202, 22552622, 23107467, 28744404, 29562800		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24756644		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	19491893		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17934516, 28849055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26070868		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25416862, 30905812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22330138, 26884069, 28059831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23982143, 26147747, 26161699, 26896831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19491893, 25272010, 25323766, 26310391, 27072587, 28128913		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12838312, 16886595, 17934516, 19491893, 21496237, 22205202, 22330138, 23023523, 24756644, 25349215, 25550546, 25572953, 26548607, 27072587, 27839516, 28467809, 28584306, 28881702, 28981102, 29074623, 29285183, 29620240, 30008828, 30666134, 30696879, 30710064, 31238111, 31391149		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19270723, 29157076		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22219067, 23023523, 26768845, 30956060		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27449774, 28901497		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29620240		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29620240	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33800494	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15996199		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15361834, 16195352, 17934516, 21351083, 21496237, 22286757, 22330138, 22412883, 22552622, 23023523, 23688286, 23982143, 24637615, 24756644, 25323766, 25550546, 25940709, 26147747, 27431502, 27449774, 27839516, 28128913, 28467809, 28584306, 28744404, 29285183, 29859850, 29983883, 30530687, 30905812, 30989656, 31043707, 31442209		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21351083, 29516630, 30008828		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31428652	Associate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31802345		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26548607		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26070868		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25743796, 26070868	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25416862, 30905812		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26497117	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30174788		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36593912	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29849118		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29849118		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20026309, 20807569		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22330138, 26884069, 28059831		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22330138		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26884069, 36681316	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	19491893		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27487138, 31043707		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	25338120, 28467809, 29415984, 31044388, 31782885		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	29415984	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26752645		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19943104		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23943380, 27507047, 29187878		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34398824	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23982143, 26147747, 26161699, 26896831		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26831603	Associate	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	28128913		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	31442209		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19809427	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	28128913		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19491893, 25323766, 27072587, 28128913	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25272010	Stimulate	★☆☆☆☆ Found in Text Mining only
Urogenital Neoplasms	Urogenital neoplasm	Pubtator	25349215	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19270723, 23688286, 29157076, 33795533, 38556072	Associate	★☆☆☆☆ Found in Text Mining only