HDAC1 (histone deacetylase 1)

Gene

• Entrez ID: 3065
• Gene name: Histone deacetylase 1
• Gene symbol: HDAC1
• Synonyms: 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	IBA	21873635
GO:0000118	Component	Histone deacetylase complex	TAS	12711221
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18854353
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	TAS
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	IDA	16731528, 22926524, 23629966, 23770133
GO:0000792	Component	Heterochromatin	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:0001085	Function	RNA polymerase II transcription factor binding	IPI	18936100
GO:0001103	Function	RNA polymerase II repressing transcription factor binding	IPI	22926524
GO:0002039	Function	P53 binding	IPI	23629966
GO:0003714	Function	Transcription corepressor activity	IDA	15919722
GO:0004407	Function	Histone deacetylase activity	IBA	21873635
GO:0004407	Function	Histone deacetylase activity	IDA	16762839
GO:0004407	Function	Histone deacetylase activity	IMP	17996965, 19182791
GO:0004407	Function	Histone deacetylase activity	TAS	12711221
GO:0005515	Function	Protein binding	IPI	9150135, 9468139, 9468140, 10220385, 10779361, 10846170, 10898795, 11006275, 11013263, 11259576, 11553631, 11559788, 11641274, 11739383, 11863372, 11931769, 12176973, 12192000, 12202768, 12482978, 12529400, 12670868, 12711603, 12730668, 12847090, 14752048, 15016378, 15140878, 152732
GO:0005634	Component	Nucleus	IDA	10846170, 18347167, 18936100
GO:0005654	Component	Nucleoplasm	IDA	22720776, 22926524
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	TAS	12711221
GO:0005829	Component	Cytosol	IDA	18326024
GO:0006325	Process	Chromatin organization	TAS	12711221
GO:0006338	Process	Chromatin remodeling	IC	16762839, 17827154
GO:0006346	Process	DNA methylation-dependent heterochromatin assembly	IGI	23770133
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IGI	19057576
GO:0006476	Process	Protein deacetylation	IDA	17172643, 23629966
GO:0007492	Process	Endoderm development	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0008134	Function	Transcription factor binding	IPI	15509593, 16569215, 18850004, 18974119
GO:0008134	Function	Transcription factor binding	TAS	12711221
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18347167
GO:0009913	Process	Epidermal cell differentiation	ISS
GO:0010629	Process	Negative regulation of gene expression	IMP	16581785
GO:0010832	Process	Negative regulation of myotube differentiation	IMP	10983972
GO:0016575	Process	Histone deacetylation	IMP	19182791
GO:0016580	Component	Sin3 complex	IDA	17827154
GO:0016581	Component	NuRD complex	IDA	17827154, 19644445, 22926524
GO:0019213	Function	Deacetylase activity	ISS
GO:0019899	Function	Enzyme binding	IPI	11062478, 11136718, 11641274
GO:0021766	Process	Hippocampus development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032041	Function	NAD-dependent histone deacetylase activity (H3-K14 specific)	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:0033558	Function	Protein deacetylase activity	IDA	17172643, 23629966
GO:0033558	Function	Protein deacetylase activity	IMP	19182791
GO:0033613	Function	Activating transcription factor binding	IPI	20590529
GO:0035851	Function	Krueppel-associated box domain binding	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042733	Process	Embryonic digit morphogenesis	ISS
GO:0042826	Function	Histone deacetylase binding	IPI	12590135, 28046085
GO:0043025	Component	Neuronal cell body	IEA
GO:0043044	Process	ATP-dependent chromatin remodeling	HDA	16217013
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 I-kappaB kinase/NF-kappaB signaling	IEA
GO:0043922	Process	Negative regulation by host of viral transcription	IMP	16540471
GO:0045652	Process	Regulation of megakaryocyte differentiation	TAS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	18247378, 18974119
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	16762839
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16762839
GO:0047485	Function	Protein N-terminus binding	IDA	17150957
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0051059	Function	NF-kappaB binding	IPI	17785205
GO:0052548	Process	Regulation of endopeptidase activity	IMP	19057576
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IDA	15919722
GO:0060789	Process	Hair follicle placode formation	ISS
GO:0061029	Process	Eyelid development in camera-type eye	ISS
GO:0061198	Process	Fungiform papilla formation	ISS
GO:0070491	Function	Repressing transcription factor binding	IPI	16731528
GO:0070888	Function	E-box binding	IEA
GO:0070932	Process	Histone H3 deacetylation	IBA	21873635
GO:0070932	Process	Histone H3 deacetylation	IDA	12590135
GO:0070933	Process	Histone H4 deacetylation	IBA	21873635
GO:0070933	Process	Histone H4 deacetylation	IDA	12590135
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IGI	18936100
GO:1900221	Process	Regulation of amyloid-beta clearance	IC	19057576
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904837	Process	Beta-catenin-TCF complex assembly	TAS
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:2000273	Process	Positive regulation of signaling receptor activity	IMP	18316616
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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	21527555
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	28963909
Pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954	22711276
Pulmonary hypertension	Familial primary pulmonary hypertension, Pulmonary Hypertension, Primary, 1	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748, rs137852749, rs137852750, rs137852751, rs137852752, rs137852753, rs483352902, rs137852756, rs1559129372, rs587777017, rs879255566, rs397514716, rs398123039, rs398123041, rs398123042, rs398123043, rs199475679, rs587780295, rs863223423, rs863223426, rs863223424, rs863223420, rs863223422, rs758683062, rs869025366, rs869025367, rs876657748, rs878854272, rs886039219, rs886039223, rs886039220, rs886039221, rs886039222, rs886039673, rs886041324, rs369061090, rs200214298, rs758724746, rs1060502576, rs1060502581, rs1060502584, rs1064794258, rs1085307144, rs1085307145, rs1085307146, rs1085307148, rs1085307147, rs1085307149, rs1085307150, rs1085307151, rs1085307152, rs1085307153, rs1085307154, rs370120266, rs1085307155, rs1085307156, rs1085307157, rs1085307158, rs1085307159, rs1085307160, rs1085307161, rs1085307162, rs1085307163, rs1085307164, rs1085307165, rs1085307166, rs1085307169, rs1085307170, rs1085307171, rs1085307172, rs1553503200, rs1085307173, rs1085307174, rs1085307175, rs1085307176, rs1085307177, rs1085307178, rs1085307179, rs1085307180, rs1085307181, rs1085307182, rs1085307184, rs1085307185, rs1085307186, rs1085307187, rs1085307188, rs1085307190, rs1085307191, rs1553503473, rs1085307192, rs368090069, rs1085307193, rs1085307194, rs1085307195, rs1085307196, rs1085307197, rs1085307198, rs1085307199, rs1085307201, rs1085307202, rs1085307203, rs1085307204, rs1085307205, rs1085307208, rs1085307209, rs1085307210, rs1085307211, rs1085307212, rs1085307213, rs1085307214, rs1085307215, rs1085307216, rs1085307217, rs1085307219, rs1085307220, rs1085307221, rs1085307222, rs1085307223, rs1085307224, rs1085307225, rs1085307226, rs1085307227, rs1085307228, rs1085307229, rs1085307230, rs1085307231, rs1085307232, rs1085307233, rs1085307234, rs1085307235, rs1085307236, rs1085307237, rs1085307239, rs1085307240, rs1085307242, rs1085307243, rs1085307245, rs1085307246, rs1085307247, rs1085307248, rs1085307249, rs1085307250, rs1085307251, rs1085307252, rs1085307253, rs1085307254, rs1085307255, rs1085307256, rs1085307257, rs1085307258, rs1085307259, rs1085307260, rs1085307261, rs1085307262, rs1085307263, rs1085307265, rs1085307266, rs1085307267, rs1085307268, rs576091247, rs1085307269, rs1085307270, rs1085307271, rs1085307272, rs200948870, rs1085307273, rs1085307275, rs1085307276, rs1085307277, rs1085307278, rs1085307279, rs1085307281, rs1085307282, rs1085307283, rs1085307284, rs1085307285, rs1085307286, rs1085307287, rs1085307290, rs1085307291, rs1085307292, rs1085307294, rs1085307295, rs1085307296, rs1085307297, rs1085307298, rs1085307301, rs748230358, rs1085307303, rs1085307304, rs1085307306, rs1085307307, rs1085307308, rs1085307311, rs946132834, rs1085307313, rs1085307315, rs1085307316, rs1085307317, rs1085307318, rs1553509997, rs1085307319, rs1085307320, rs1085307321, rs1085307322, rs1085307324, rs1085307325, rs1085307326, rs1085307327, rs1085307328, rs767070218, rs1085307329, rs1085307330, rs1085307331, rs1085307332, rs1085307333, rs1085307334, rs1085307335, rs1085307336, rs1085307337, rs1085307338, rs868369541, rs1085307339, rs1085307340, rs1085307342, rs1085307343, rs1085307344, rs1085307345, rs1085307346, rs1085307347, rs1085307348, rs1085307349, rs1085307350, rs1085307351, rs1085307352, rs1085307353, rs937502048, rs1085307355, rs1085307356, rs1085307357, rs1085307358, rs1085307359, rs1085307360, rs1085307361, rs1085307362, rs780722371, rs1085307363, rs1085307365, rs1085307366, rs759990771, rs765887545, rs777458559, rs1085307369, rs1085307370, rs1085307371, rs1085307372, rs759293027, rs1085307373, rs1085307374, rs1085307375, rs1085307376, rs1085307377, rs1085307378, rs1085307379, rs1085307380, rs1085307381, rs1085307382, rs1085307383, rs1085307384, rs1085307385, rs1085307386, rs1085307387, rs1085307389, rs1085307388, rs1085307390, rs1085307391, rs1085307392, rs1085307393, rs1085307394, rs1085307395, rs1006246556, rs1085307396, rs1085307397, rs1085307398, rs1085307399, rs1085307400, rs769603144, rs1085307401, rs1085307402, rs1085307403, rs1085307438, rs1085307436, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288, rs1085307183, rs1085307218, rs1085307238, rs1085307302, rs1085307310, rs772497399, rs1326644714, rs1553509984, rs1553508321, rs1288123680, rs1375304341, rs1553509983, rs770716081, rs1553387422, rs1555883342, rs754897911, rs1553512225, rs1275489342, rs202107577, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs767575696, rs1374322297, rs1559073178, rs1559062859, rs1574505369, rs1574506470, rs1574506949, rs201716417, rs767694281, rs1574548003, rs1603248606, rs1603255224, rs1574464060, rs1574506914, rs1603248167, rs1603255327, rs1603256095, rs1574499954, rs1692288591, rs1687663690, rs1688559190, rs1698355880, rs1264586092	22711276
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	23664640, 17961987

Unknown
Disease name	Disease term	dbSNP ID	References
Endometrioma	Endometrioma		22138541
Endometriosis	Endometriosis	rs1800629, rs1143634	22138541
Heart diseases	Heart Diseases		18625706
Mood disorder	Mood Disorders		23967191
Pulmonary hypertension with hereditary hemorrhagic telangiectasia	Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia		22711276