HDAC1 (histone deacetylase 1)

Gene

• Entrez ID: 3065
• Gene name: Histone deacetylase 1
• Gene symbol: HDAC1
• Synonyms (NCBI Gene): GON-10, HD1, KDAC1, RPD3, RPD3L1
• Chromosome: 1
• Chromosome location: 1p35.2-p35.1
• Summary: Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the his

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs797044931	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003760	hsa-miR-449a	BPH-1 and LNCaP)"	19252524
MIRT003760	hsa-miR-449a	BPH-1 and LNCaP)"	19252524
MIRT003760	hsa-miR-449a	BPH-1 and LNCaP)"	19252524
MIRT003760	hsa-miR-449a	Immunoblot	20948989
MIRT006353	hsa-miR-449b-5p	Luciferase reporter assay, Western blot	21418558
MIRT003760	hsa-miR-449a	Luciferase reporter assay, Western blot	21418558
MIRT006353	hsa-miR-449b-5p	Luciferase reporter assay, Western blot	21418558
MIRT006353	hsa-miR-449b-5p	Luciferase reporter assay, Western blot	21418558
MIRT003760	hsa-miR-449a	Reporter assay;Other	19252524
MIRT025557	hsa-miR-34a-5p	Reporter assay;Proteomics	21566225
MIRT030619	hsa-miR-24-3p	Sequencing	20371350
MIRT049948	hsa-miR-30a-5p	CLASH	23622248
MIRT049098	hsa-miR-92a-3p	CLASH	23622248
MIRT039704	hsa-miR-615-3p	CLASH	23622248
MIRT039285	hsa-miR-671-5p	CLASH	23622248
MIRT053053	hsa-miR-874-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23558898
MIRT053589	hsa-miR-520h	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24316511
MIRT025557	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23836017
MIRT025557	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23836017
MIRT025557	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23836017
MIRT025557	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23836017
MIRT025557	hsa-miR-34a-5p	Immunofluorescence, Microarray, qRT-PCR, Western blot	26035691
MIRT003760	hsa-miR-449a	Luciferase reporter assay	25405810
MIRT025557	hsa-miR-34a-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	28123637
MIRT025557	hsa-miR-34a-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	28123637
MIRT053053	hsa-miR-874-3p	Western blotting, qRT-PCR, Flow cytometry	33732332
MIRT735834	hsa-miR-520d-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32950972
MIRT737513	hsa-miR-125a-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR	33790607
MIRT756075	hsa-miR-570-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36120375
MIRT1042275	hsa-miR-1256	CLIP-seq
MIRT1042276	hsa-miR-1304	CLIP-seq
MIRT1042277	hsa-miR-153	CLIP-seq
MIRT1042278	hsa-miR-2110	CLIP-seq
MIRT1042279	hsa-miR-24	CLIP-seq
MIRT1042280	hsa-miR-298	CLIP-seq
MIRT1042281	hsa-miR-3150a-3p	CLIP-seq
MIRT1042282	hsa-miR-3158-5p	CLIP-seq
MIRT1042283	hsa-miR-3184	CLIP-seq
MIRT1042284	hsa-miR-3613-3p	CLIP-seq
MIRT1042285	hsa-miR-3614-5p	CLIP-seq
MIRT1042286	hsa-miR-371-5p	CLIP-seq
MIRT1042287	hsa-miR-371b-5p	CLIP-seq
MIRT1042288	hsa-miR-423-5p	CLIP-seq
MIRT1042289	hsa-miR-4266	CLIP-seq
MIRT1042290	hsa-miR-4269	CLIP-seq
MIRT1042291	hsa-miR-4271	CLIP-seq
MIRT1042292	hsa-miR-4284	CLIP-seq
MIRT1042293	hsa-miR-4433	CLIP-seq
MIRT1042294	hsa-miR-4459	CLIP-seq
MIRT1042295	hsa-miR-448	CLIP-seq
MIRT1042296	hsa-miR-4496	CLIP-seq
MIRT1042297	hsa-miR-4642	CLIP-seq
MIRT1042298	hsa-miR-4690-5p	CLIP-seq
MIRT1042299	hsa-miR-4725-3p	CLIP-seq
MIRT1042300	hsa-miR-4747-5p	CLIP-seq
MIRT1042301	hsa-miR-4768-3p	CLIP-seq
MIRT1042302	hsa-miR-511	CLIP-seq
MIRT1042303	hsa-miR-548l	CLIP-seq
MIRT1042304	hsa-miR-548n	CLIP-seq
MIRT1042305	hsa-miR-548t	CLIP-seq
MIRT1042306	hsa-miR-584	CLIP-seq
MIRT2008914	hsa-miR-3145-3p	CLIP-seq
MIRT2008915	hsa-miR-4292	CLIP-seq
MIRT2008916	hsa-miR-4308	CLIP-seq
MIRT2008917	hsa-miR-4450	CLIP-seq
MIRT2008918	hsa-miR-4652-3p	CLIP-seq
MIRT2008919	hsa-miR-4667-5p	CLIP-seq
MIRT2008920	hsa-miR-4700-5p	CLIP-seq
MIRT1042275	hsa-miR-1256	CLIP-seq
MIRT1042277	hsa-miR-153	CLIP-seq
MIRT1042285	hsa-miR-3614-5p	CLIP-seq
MIRT1042293	hsa-miR-4433	CLIP-seq
MIRT1042294	hsa-miR-4459	CLIP-seq
MIRT1042295	hsa-miR-448	CLIP-seq
MIRT1042297	hsa-miR-4642	CLIP-seq
MIRT1042301	hsa-miR-4768-3p	CLIP-seq
MIRT1042302	hsa-miR-511	CLIP-seq
MIRT1042303	hsa-miR-548l	CLIP-seq
MIRT1042304	hsa-miR-548n	CLIP-seq
MIRT1042305	hsa-miR-548t	CLIP-seq
MIRT1042306	hsa-miR-584	CLIP-seq
MIRT2544977	hsa-miR-125a-5p	CLIP-seq
MIRT2544978	hsa-miR-125b	CLIP-seq
MIRT2544979	hsa-miR-1293	CLIP-seq
MIRT1042276	hsa-miR-1304	CLIP-seq
MIRT2544980	hsa-miR-146b-3p	CLIP-seq
MIRT2544981	hsa-miR-22	CLIP-seq
MIRT1042279	hsa-miR-24	CLIP-seq
MIRT2544982	hsa-miR-2682	CLIP-seq
MIRT2544983	hsa-miR-31	CLIP-seq
MIRT2008914	hsa-miR-3145-3p	CLIP-seq
MIRT2544984	hsa-miR-3173-5p	CLIP-seq
MIRT2544985	hsa-miR-34a	CLIP-seq
MIRT2544986	hsa-miR-34c-5p	CLIP-seq
MIRT1042285	hsa-miR-3614-5p	CLIP-seq
MIRT2544987	hsa-miR-3616-3p	CLIP-seq
MIRT2544988	hsa-miR-3653	CLIP-seq
MIRT2544989	hsa-miR-3658	CLIP-seq
MIRT2544990	hsa-miR-3670	CLIP-seq
MIRT2544991	hsa-miR-3688-5p	CLIP-seq
MIRT2544992	hsa-miR-3690	CLIP-seq
MIRT2544993	hsa-miR-3973	CLIP-seq
MIRT2544994	hsa-miR-4254	CLIP-seq
MIRT1042292	hsa-miR-4284	CLIP-seq
MIRT2008915	hsa-miR-4292	CLIP-seq
MIRT2008916	hsa-miR-4308	CLIP-seq
MIRT2544995	hsa-miR-4319	CLIP-seq
MIRT2544996	hsa-miR-4436b-3p	CLIP-seq
MIRT2008917	hsa-miR-4450	CLIP-seq
MIRT2544997	hsa-miR-4483	CLIP-seq
MIRT2544998	hsa-miR-449b	CLIP-seq
MIRT2544999	hsa-miR-449c	CLIP-seq
MIRT2545000	hsa-miR-4506	CLIP-seq
MIRT2545001	hsa-miR-4508	CLIP-seq
MIRT2545002	hsa-miR-4511	CLIP-seq
MIRT2545003	hsa-miR-4514	CLIP-seq
MIRT2008918	hsa-miR-4652-3p	CLIP-seq
MIRT2008919	hsa-miR-4667-5p	CLIP-seq
MIRT2545004	hsa-miR-4681	CLIP-seq
MIRT2545005	hsa-miR-4692	CLIP-seq
MIRT2008920	hsa-miR-4700-5p	CLIP-seq
MIRT1042300	hsa-miR-4747-5p	CLIP-seq
MIRT2545006	hsa-miR-4761-5p	CLIP-seq
MIRT2545007	hsa-miR-520g	CLIP-seq
MIRT2545008	hsa-miR-548b-3p	CLIP-seq
MIRT2545009	hsa-miR-578	CLIP-seq
MIRT1042306	hsa-miR-584	CLIP-seq
MIRT2545010	hsa-miR-7	CLIP-seq
MIRT2545011	hsa-miR-874	CLIP-seq
MIRT2544977	hsa-miR-125a-5p	CLIP-seq
MIRT2544978	hsa-miR-125b	CLIP-seq
MIRT2544979	hsa-miR-1293	CLIP-seq
MIRT1042276	hsa-miR-1304	CLIP-seq
MIRT2544980	hsa-miR-146b-3p	CLIP-seq
MIRT2544981	hsa-miR-22	CLIP-seq
MIRT1042279	hsa-miR-24	CLIP-seq
MIRT2544982	hsa-miR-2682	CLIP-seq
MIRT2544983	hsa-miR-31	CLIP-seq
MIRT2008914	hsa-miR-3145-3p	CLIP-seq
MIRT2544984	hsa-miR-3173-5p	CLIP-seq
MIRT2544985	hsa-miR-34a	CLIP-seq
MIRT2544986	hsa-miR-34c-5p	CLIP-seq
MIRT1042285	hsa-miR-3614-5p	CLIP-seq
MIRT2544987	hsa-miR-3616-3p	CLIP-seq
MIRT2544988	hsa-miR-3653	CLIP-seq
MIRT2544989	hsa-miR-3658	CLIP-seq
MIRT2544990	hsa-miR-3670	CLIP-seq
MIRT2544991	hsa-miR-3688-5p	CLIP-seq
MIRT2544992	hsa-miR-3690	CLIP-seq
MIRT2544993	hsa-miR-3973	CLIP-seq
MIRT2544994	hsa-miR-4254	CLIP-seq
MIRT1042292	hsa-miR-4284	CLIP-seq
MIRT2008915	hsa-miR-4292	CLIP-seq
MIRT2008916	hsa-miR-4308	CLIP-seq
MIRT2544995	hsa-miR-4319	CLIP-seq
MIRT2544996	hsa-miR-4436b-3p	CLIP-seq
MIRT2008917	hsa-miR-4450	CLIP-seq
MIRT2544997	hsa-miR-4483	CLIP-seq
MIRT2544998	hsa-miR-449b	CLIP-seq
MIRT2544999	hsa-miR-449c	CLIP-seq
MIRT2545000	hsa-miR-4506	CLIP-seq
MIRT2545001	hsa-miR-4508	CLIP-seq
MIRT2545002	hsa-miR-4511	CLIP-seq
MIRT2545003	hsa-miR-4514	CLIP-seq
MIRT2008918	hsa-miR-4652-3p	CLIP-seq
MIRT2008919	hsa-miR-4667-5p	CLIP-seq
MIRT2545004	hsa-miR-4681	CLIP-seq
MIRT2545005	hsa-miR-4692	CLIP-seq
MIRT2008920	hsa-miR-4700-5p	CLIP-seq
MIRT1042300	hsa-miR-4747-5p	CLIP-seq
MIRT2545006	hsa-miR-4761-5p	CLIP-seq
MIRT2545007	hsa-miR-520g	CLIP-seq
MIRT2545008	hsa-miR-548b-3p	CLIP-seq
MIRT2545009	hsa-miR-578	CLIP-seq
MIRT1042306	hsa-miR-584	CLIP-seq
MIRT2545010	hsa-miR-7	CLIP-seq
MIRT2545011	hsa-miR-874	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DNMT1	Unknown	24475290
EZH2	Repression	20132185
FLI1	Unknown	24058639
MTA1	Unknown	23791785
NFKB1	Unknown	23027620
RELA	Unknown	23027620
RFX1	Unknown	16464847
SATB1	Unknown	15713622
YY1	Unknown	11532945

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	9651585
GO:0000118	Component	Histone deacetylase complex	IEA
GO:0000118	Component	Histone deacetylase complex	TAS	12711221
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18854353, 30599067
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	18936100, 23770133
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18850004
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	NAS	9651585, 22865885
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	IDA	16731528, 22926524, 23629966, 23770133
GO:0000785	Component	Chromatin	IEA
GO:0000792	Component	Heterochromatin	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IGI	18974119
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	19057576
GO:0001046	Function	Core promoter sequence-specific DNA binding	IDA	23629966
GO:0001222	Function	Transcription corepressor binding	IPI	10898795
GO:0002039	Function	P53 binding	IPI	23629966
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	15919722, 30599067
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0004407	Function	Histone deacetylase activity	IBA
GO:0004407	Function	Histone deacetylase activity	IDA	12590135, 16762839, 28497810
GO:0004407	Function	Histone deacetylase activity	IEA
GO:0004407	Function	Histone deacetylase activity	IMP	17996965, 19182791
GO:0004407	Function	Histone deacetylase activity	TAS	12711221
GO:0005515	Function	Protein binding	IDA	17150957
GO:0005515	Function	Protein binding	IPI	9150135, 9468139, 9468140, 9651585, 10220385, 10779361, 10846170, 11006275, 11013263, 11259576, 11553631, 11559788, 11641274, 11739383, 11863372, 11931769, 12176973, 12192000, 12202768, 12482978, 12529400, 12670868, 12711603, 12730668, 12847090, 14752048, 15140878, 15273251, 1529870
GO:0005634	Component	Nucleus	IDA	9651585, 10846170, 18347167, 18936100, 20523938, 28977666, 33283408
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	28554894
GO:0005654	Component	Nucleoplasm	IDA	22720776, 22926524
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	12711221
GO:0005829	Component	Cytosol	IDA	18326024
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	TAS	12711221
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IC	16762839, 17827154
GO:0006338	Process	Chromatin remodeling	IDA	9790534
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IGI	23770133
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IGI	19057576
GO:0006476	Process	Protein deacetylation	IDA	23629966
GO:0007492	Process	Endoderm development	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18347167
GO:0009913	Process	Epidermal cell differentiation	IEA
GO:0009913	Process	Epidermal cell differentiation	ISS
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IMP	16581785
GO:0010832	Process	Negative regulation of myotube differentiation	IMP	10983972
GO:0016581	Component	NuRD complex	IBA
GO:0016581	Component	NuRD complex	IDA	17827154, 19644445, 22926524, 33283408
GO:0016581	Component	NuRD complex	IEA
GO:0016581	Component	NuRD complex	NAS	16428440
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0017053	Component	Transcription repressor complex	IEA
GO:0019899	Function	Enzyme binding	IPI	11062478, 11136718, 11641274
GO:0021766	Process	Hippocampus development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	NAS	22984288
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	NAS	22984288
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0031507	Process	Heterochromatin formation	IBA
GO:0031507	Process	Heterochromatin formation	IEA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0032991	Component	Protein-containing complex	IDA	28046085
GO:0032991	Component	Protein-containing complex	IEA
GO:0033148	Process	Positive regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033148	Process	Positive regulation of intracellular estrogen receptor signaling pathway	IMP	18316616
GO:0033558	Function	Protein lysine deacetylase activity	IDA	16285960, 17172643, 23629966
GO:0033558	Function	Protein lysine deacetylase activity	IEA
GO:0033558	Function	Protein lysine deacetylase activity	IMP	19182791
GO:0033558	Function	Protein lysine deacetylase activity	TAS
GO:0035851	Function	Krueppel-associated box domain binding	IEA
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	ISS
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042659	Process	Regulation of cell fate specification	NAS	22560079
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	ISS
GO:0042826	Function	Histone deacetylase binding	IPI	12590135, 28046085
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043066	Process	Negative regulation of apoptotic process	TAS	10777477
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0043922	Process	Host-mediated suppression of viral transcription	IMP	16540471
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	19057576
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	18247378, 18974119
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	NAS	22560079
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16762839
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	19927129
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16762839
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0051059	Function	NF-kappaB binding	IEA
GO:0051059	Function	NF-kappaB binding	IPI	17785205
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IDA	15919722
GO:0060789	Process	Hair follicle placode formation	IEA
GO:0060789	Process	Hair follicle placode formation	ISS
GO:0061029	Process	Eyelid development in camera-type eye	IEA
GO:0061029	Process	Eyelid development in camera-type eye	ISS
GO:0061198	Process	Fungiform papilla formation	IEA
GO:0061198	Process	Fungiform papilla formation	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	18850004, 18936100, 22926524
GO:0070822	Component	Sin3-type complex	IDA	17827154
GO:0070822	Component	Sin3-type complex	IEA
GO:0070822	Component	Sin3-type complex	NAS	28554894
GO:0070888	Function	E-box binding	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IGI	18936100
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15509593, 16731528, 18974119, 20590529
GO:0140297	Function	DNA-binding transcription factor binding	TAS	12711221
GO:0141221	Function	Histone deacetylase activity, hydrolytic mechanism	IEA
GO:0160008	Function	Protein decrotonylase activity	IEA
GO:0160009	Function	Histone decrotonylase activity	IDA	28497810
GO:0160009	Function	Histone decrotonylase activity	IEA
GO:0160216	Function	Protein lysine delactylase activity	IDA	35044827
GO:0160216	Function	Protein lysine delactylase activity	IEA
GO:1902455	Process	Negative regulation of stem cell population maintenance	NAS	28554894
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	28554894
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:2000736	Process	Regulation of stem cell differentiation	NAS	22560079
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 601241
• HGNC: 4852
• e!Ensembl: ENSG00000116478

Protein

• UniProt ID: Q13547
• Protein name: Histone deacetylase 1 (HD1) (EC 3.5.1.98) (Protein deacetylase HDAC1) (EC 3.5.1.-) (Protein deacylase HDAC1) (EC 3.5.1.-)
• Protein function: Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:16762839, PubMed:17704056, PubMed:28497810). Histone deacetylation gives a tag for epigenetic repre
• PDB: 4BKX, 5ICN, 6Z2J, 6Z2K, 7AO8, 7AO9, 7AOA, 7SME, 8VOJ, 8VPQ, 8VRT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00850	Hist_deacetyl	28 → 319	Histone deacetylase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous, with higher levels in heart, pancreas and testis, and lower levels in kidney and brain.
• Sequence:

  MAQTQGTRRKVCYYYDGDVGNYYYGQGHPMKPHRIRMTHNLLLNYGLYRKMEIYRPHKAN
  AEEMTKYHSDDYIKFLRSIRPDNMSEYSKQMQRFNVGEDCPVFDGLFEFCQLSTGGSVAS
  AVKLNKQQTDIAVNWAGGLHHAKKSEASGFCYVNDIVLAILELLKYHQRVLYIDIDIHHG
  DGVEEAFYTTDRVMTVSFHKYGEYFPGTGDLRDIGAGKGKYYAVNYPLRDGIDDESYEAI
  FKPVMSKVMEMFQPSAVVLQCGSDSLSGDRLGCFNLTIKGHAKCVEFVKSFNLPMLMLGG
  GGYTIRNVARCWTYETAVALDTEIPNELPYNDYFEYFGPDFKLHISPSNMTNQNTNEYLE
  KIKQRLFENLRMLPHAPGVQMQAIPEDAIPEESGDEDEDDPDKRISICSSDKRIACEEEF
  SDSEEEGEGGRKNSSNFKKAKRVKTEDEKEKDPEEKKEVTEEEKTKEEKPEAKGVKEEVK
  LA

• Sequence length: 482

Pathways

KEGG:

ATP-dependent chromatin remodeling
Polycomb repressive complex
Cell cycle
Longevity regulating pathway - multiple species
Notch signaling pathway
TGF-beta signaling pathway
Neutrophil extracellular trap formation
Thyroid hormone signaling pathway
Huntington disease
Amphetamine addiction
Alcoholism
Human papillomavirus infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
MicroRNAs in cancer
Chronic myeloid leukemia

Reactome:

G0 and Early G1
Formation of the beta-catenin:TCF transactivating complex
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
HDACs deacetylate histones
Notch-HLH transcription pathway
Deactivation of the beta-catenin transactivating complex
SUMOylation of chromatin organization proteins
Repression of WNT target genes
Regulation of TP53 Activity through Acetylation
RNA Polymerase I Transcription Initiation
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Regulation of PTEN gene transcription
Estrogen-dependent gene expression
Loss of MECP2 binding ability to 5mC-DNA
Regulation of MECP2 expression and activity
Factors involved in megakaryocyte development and platelet production

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
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HDAC1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ 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	20072153, 20636436, 28579617		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10572087		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28767587, 30252536		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21466904, 24265759, 25279705, 31456359		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	21301206, 25275504, 26502922		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20072153, 28579617		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	20415600		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	21472142, 9849894		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	25529528		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29140459, 31771229		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	24509083		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	19802013		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	28576709, 31849603		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	31423206		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	12750289, 19528037, 28369619, 29374219, 31500290		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	31001930		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	31001930	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31001930		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28485501, 29328474		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20609223, 20959025, 34353082	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12153977, 22156779, 24307847, 29956778, 31520700		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24307847, 29956778	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	21143702	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28485501, 29328474		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33757583	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30463877		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	30463877	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27886239		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	19802013		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11563853		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	27959513	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	30072211		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	22206711		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12789259, 16172792, 17230502, 21655924, 23421821, 25173798, 25801958, 28349825, 28534825, 28779562, 28870936, 29738697, 29988076, 30251407, 30290214, 31375747		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19383825, 21655924, 21737614, 23627572, 24376786, 26764010, 26862729, 28349825, 28534825, 32686908, 33885658, 35053185, 37505141, 37649051, 38206773	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	22206711		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	40021103	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11749695, 25791281	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18253084		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	22455563, 23421821	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22496786, 26352599, 26575952, 27507654, 32191631, 32557953, 32807131, 34245919, 34319031, 34691238, 37923899, 38127054	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27342975	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	19383825	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	13679859, 15474665, 19596925, 22078727, 23932364, 25970771, 28767587, 30280780, 30525585, 30612578		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29374219, 34049503, 37996815	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27506904, 30463940, 30951404	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33671013, 35756488	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30503211		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24475290, 27694895, 30071534		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36883446	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	23421821		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25972164		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20072153, 23948281, 28579617		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	21359182		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	29956778		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	21472142, 9849894		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29436659, 32116234	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31665232		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30776024		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22237050, 27756747, 28260932, 31226417		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30267710		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31849603		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21617866		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12847090	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17720775, 25307864, 26619963, 28424407, 30782261, 31177123, 31228495		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17720775, 19198625, 23708667, 24518414, 24948597, 32592383, 33576217, 36982429, 38062013	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18347167		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23708667, 26619963		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26423403, 28424407	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	23669349		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29890207, 30463940, 30872677, 30951404		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30857550	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31737059		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30127218		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	36175163	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19531758, 20609223		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	20930523	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	27959513	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37330465, 38250727	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34233433, 36529747	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	33096729	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	18714364		★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	16985053		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22138541		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	23833041		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	22138541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	22344732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	22344732, 23690335, 35321026, 35980861	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	20464640, 27086779		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	20464640, 27086779		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26898709, 27086779	Associate	★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	29456726		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	CTD_human_DG	22711276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	15796905		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	25792651		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24448807		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	19860841, 27092878		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	28424407	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28990066		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18708058, 30654849, 32328646, 34494550, 35417530	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27632183, 27766591, 29782850, 31178471, 31400279, 31633244		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27632183, 27766591, 27832326, 29782850, 31178471, 31400279, 31633244		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18708058, 24176859, 28624794, 29782850		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18708058		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18708058, 21143702, 24176859, 25791281, 26521947, 32328646, 34494550, 35545840, 36810892, 37528157	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30654849	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	30776024		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	30728075	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	18625706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Diseases	Hematologic disease	Pubtator	36293392	Stimulate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27886239		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	27635950		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	27635950, 34245919, 35507738	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	34459501	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	28700998		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	37061531	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	20415600		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	29481474	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18762557, 22590724, 22918830		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	24933366	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34667186	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28720877		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27506904, 34667186	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35840042	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	CTD_human_DG	22711276		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28352664, 31849603		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	21982637, 31704828		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	30670829		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	31423206		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30776024		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30776024		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26588579		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	26839444	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	31761932	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	36497061	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21176959, 26655717, 28579617		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21359182, 26655717, 34073721	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21359182, 26858310, 28030834, 31411110, 36424383	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17389244, 25341045, 26858310, 28060870, 28814980, 29494986, 30814129, 31358016, 31830533		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Accelerated Phase	Myeloid Leukemia	BEFREE	30072211		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	24830600, 25279705		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	28485501		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	22328974	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	31620242		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18004079		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18264140, 20850540, 21206745, 22496786, 22641068, 23505027, 23621261, 25792651, 26575952, 27060025, 27507654, 28123637, 28262837, 28411180, 28489564, 28647696, 29465312, 29484736, 29635894, 31092334, 31289505, 31440094, 31637215		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30267710		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19596925, 25970771, 29108454, 30612578, 34203519	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24441677	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21976679	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37661113	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21192791		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22455563	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	18671804		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	27422033, 28288848, 30012418		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29096654		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	27756747		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12789259, 16172792, 17230502, 21655924, 22422937, 23421821, 25173798, 25801958, 28349825, 28534825, 28779562, 28870936, 29738697, 29988076, 30251407, 30290214, 31375747		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	20464640, 27086779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	27092878		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28424407		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22446383, 22496786		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15474665, 19596925, 22078727, 23932364, 25593344, 25970771, 28767587, 30280780, 30525585, 30612578		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24475290, 27694895, 30071534		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20467347, 22147512, 26083726, 27721407, 29374219		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11563853, 12646234, 15590418, 16914734, 17079440, 19252524, 19384952, 19657377, 22797919, 25794974, 28112184, 30453545, 30551877		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11749695, 21725604, 25862862, 26035691, 28502558, 30250993, 30500418, 30537988, 30774435, 30867763		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	16960727		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30669676		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27796928		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18789002, 19182791, 19252524, 19351825, 20464640, 20967026, 21301206, 21617866, 22006862, 22180294, 22371336, 22496786, 22800507, 23104175, 23754571, 25173798, 25279705, 25482492, 25593344, 25794974, 25942572, 26024595, 26772204, 27507654, 28004751, 28392145, 28424407, 28767587, 28847179, 29055107, 29058807, 29344124, 29447615, 29518312, 29537214, 29635894, 29917299, 30009847, 30251407, 30280780, 30552170, 30842103, 31178471, 31375747, 31395086, 31773377		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	16960727		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21617866		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15155736, 16172792		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	27756747		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	31400279		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20081843, 21472142, 9849894		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	17578512		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17850504		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21285511, 26980768		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24850177, 25071017	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	26936390		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	25071017		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29439356		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	31614134		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	23967191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	29456726		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25482492, 28119431		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25482492, 27738323	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34738621	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28964722		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30463275, 32241259, 36282535	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28963909		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	28963909		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	25341045		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16409301		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31168029		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26205347		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35689852	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11430826, 12239610, 15361834, 16172792, 16309230, 16697957, 17343577, 18253084, 19860841, 20967026, 21301206, 21466904, 21472142, 21496237, 21527555, 22006862, 22180294, 22496786, 23421821, 23888958, 25794974, 26614844, 27086779, 27507654, 28125812, 28424407, 28624794, 29635894, 29732991, 29738697, 29763912, 29782850, 30071534, 30280780, 30500418, 30551877, 31177123		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29040381		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29170627, 29301062		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17623797, 19118036, 21123453, 23706636, 26376806		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23706636, 35821006, 36130928, 37488358, 38063204	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31330099		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21466904, 22965008, 23932364, 24309938, 28473661, 29537214, 29853494, 30612578, 31127087		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27171263, 31054509		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26797758, 31337976		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28984297, 31337976	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22344732	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24475290, 27694895, 30071534		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24249678, 24475290	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20467347, 22147512, 26083726, 27721407, 29374219		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	20467347		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15647279, 20484017, 25275504, 26502922, 29374219, 29917299, 37996815	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25275504		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	12239610		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26545632		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31423206		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	29855565		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	29855565	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26655717		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28579617		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11563853, 12646234, 15590418, 16914734, 17079440, 19252524, 19384952, 22797919, 25794974, 28112184, 30453545, 30551877		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	19384952		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15042618, 16914734		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17079440, 18212746, 22531786, 22797919, 23737958, 24294372, 32397189	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35975032	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension	CTD_human_DG	22711276		★☆☆☆☆ Found in Text Mining only
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia	Pulmonary Hypertension With Hereditary Hemorrhagic Telangiectasia	CTD_human_DG	22711276		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29890207, 30463940, 30872677, 30951404		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	22848708	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16081466, 17578512, 20948989, 23932364, 27791271		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	37408271	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	23764045	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20609223, 26152200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhinitis	Rhinitis	BEFREE	30878818		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22037263	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17961987, 21772061, 26812044, 27733539, 27959513, 28533418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17961987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17961987, 23664640		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17961987	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	35663995	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	28628607	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	22344732		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	34667186	Associate	★☆☆☆☆ Found in Text Mining only
Specific granule deficiency	Specific Granule Deficiency	BEFREE	31256937		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	35794630	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12579268		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21527555		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	21527555		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30168013, 31120582		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23558898, 27349552, 31938073, 33649777	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23558898		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29175413		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15796905		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11749695, 21725604, 25862862, 26035691, 28502558, 30250993, 30500418, 30537988, 30774435, 30867763		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	11749695, 12087472		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11749695, 34232196	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24668547	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26675260, 28424407, 39201509	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	16960727, 20967026		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31591432	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30669676		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	23873102	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30669676		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	30669676	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	23873102	Associate	★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	29896413		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29896413		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26294743		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26259750		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	27018948	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36140796	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26772204, 27250763		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	22029821	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24606473, 32319591, 33671013, 34151839, 38244809	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	35332245	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	36293392	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	38250727	Associate	★☆☆☆☆ Found in Text Mining only