SPI1 (Spi-1 proto-oncogene)

Gene

• Entrez ID: 6688
• Gene name: Spi-1 proto-oncogene
• Gene symbol: SPI1
• Synonyms (NCBI Gene): AGM10, OF, PU.1, SFPI1, SPI-1, SPI-A
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regul

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004282	hsa-miR-155-5p	Luciferase reporter assay	19386588
MIRT004282	hsa-miR-155-5p	Luciferase reporter assay	19386588
MIRT004629	hsa-miR-342-3p	Review	20026422
MIRT004827	hsa-miR-569	Luciferase reporter assay	21360505
MIRT005724	hsa-miR-34a-5p	Luciferase reporter assay	20598588
MIRT005928	hsa-miR-424-5p	ChIP-seq, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20972335
MIRT004282	hsa-miR-155-5p	Reporter assay	20680360
MIRT004282	hsa-miR-155-5p	Proteomics	18668040
MIRT004282	hsa-miR-155-5p	Proteomics	18668040
MIRT021410	hsa-miR-9-5p	Microarray	17612493
MIRT005724	hsa-miR-34a-5p	Reporter assay	20598588
MIRT038360	hsa-miR-296-3p	CLASH	23622248
MIRT004282	hsa-miR-155-5p	Luciferase reporter assay, Western blot	25288398
MIRT004282	hsa-miR-155-5p	Luciferase reporter assay, Western blot	25288398
MIRT625720	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT625719	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625718	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625717	hsa-miR-6090	HITS-CLIP	23824327
MIRT625716	hsa-miR-3657	HITS-CLIP	23824327
MIRT625715	hsa-miR-4669	HITS-CLIP	23824327
MIRT625714	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT625713	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT625720	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT625719	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625718	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625717	hsa-miR-6090	HITS-CLIP	23824327
MIRT625716	hsa-miR-3657	HITS-CLIP	23824327
MIRT625715	hsa-miR-4669	HITS-CLIP	23824327
MIRT625714	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT625713	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT625721	hsa-miR-5587-3p	HITS-CLIP	23824327
MIRT625720	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT625719	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625718	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625717	hsa-miR-6090	HITS-CLIP	23824327
MIRT625716	hsa-miR-3657	HITS-CLIP	23824327
MIRT625715	hsa-miR-4669	HITS-CLIP	23824327
MIRT625714	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT625713	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT004282	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT004282	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT004282	hsa-miR-155-5p	qRT-PCR, Luciferase reporter assay, Immunoprecipitaion, Western blot	25092144
MIRT004282	hsa-miR-155-5p	qRT-PCR, Luciferase reporter assay, Immunoprecipitaion, Western blot	25092144
MIRT735048	hsa-miR-155-3p	Microarray	32990751
MIRT735969	hsa-miR-27a-5p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	34201504
MIRT625720	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT625719	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625718	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625717	hsa-miR-6090	HITS-CLIP	23824327
MIRT625716	hsa-miR-3657	HITS-CLIP	23824327
MIRT625715	hsa-miR-4669	HITS-CLIP	23824327
MIRT625714	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT625713	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT625720	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT625719	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625718	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625717	hsa-miR-6090	HITS-CLIP	23824327
MIRT625716	hsa-miR-3657	HITS-CLIP	23824327
MIRT625715	hsa-miR-4669	HITS-CLIP	23824327
MIRT625714	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT625713	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT625721	hsa-miR-5587-3p	HITS-CLIP	23824327
MIRT625720	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT625719	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT625718	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625717	hsa-miR-6090	HITS-CLIP	23824327
MIRT625716	hsa-miR-3657	HITS-CLIP	23824327
MIRT625715	hsa-miR-4669	HITS-CLIP	23824327
MIRT625714	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT625713	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT1554092	hsa-miR-3158-3p	CLIP-seq
MIRT1554093	hsa-miR-4649-5p	CLIP-seq
MIRT1554094	hsa-miR-4721	CLIP-seq
MIRT2114904	hsa-miR-129-5p	CLIP-seq
MIRT2114905	hsa-miR-3122	CLIP-seq
MIRT1554092	hsa-miR-3158-3p	CLIP-seq
MIRT2114906	hsa-miR-3689a-3p	CLIP-seq
MIRT2114907	hsa-miR-3689c	CLIP-seq
MIRT2114908	hsa-miR-3913-5p	CLIP-seq
MIRT1554093	hsa-miR-4649-5p	CLIP-seq
MIRT1554094	hsa-miR-4721	CLIP-seq
MIRT2114909	hsa-miR-4728-5p	CLIP-seq
MIRT2114910	hsa-miR-765	CLIP-seq
MIRT2337617	hsa-miR-1207-3p	CLIP-seq
MIRT2114904	hsa-miR-129-5p	CLIP-seq
MIRT2114905	hsa-miR-3122	CLIP-seq
MIRT1554092	hsa-miR-3158-3p	CLIP-seq
MIRT2114906	hsa-miR-3689a-3p	CLIP-seq
MIRT2114907	hsa-miR-3689c	CLIP-seq
MIRT2114908	hsa-miR-3913-5p	CLIP-seq
MIRT1554093	hsa-miR-4649-5p	CLIP-seq
MIRT1554094	hsa-miR-4721	CLIP-seq
MIRT2114909	hsa-miR-4728-5p	CLIP-seq
MIRT2337618	hsa-miR-615-5p	CLIP-seq
MIRT2114910	hsa-miR-765	CLIP-seq
MIRT2114904	hsa-miR-129-5p	CLIP-seq
MIRT2114905	hsa-miR-3122	CLIP-seq
MIRT1554092	hsa-miR-3158-3p	CLIP-seq
MIRT2114906	hsa-miR-3689a-3p	CLIP-seq
MIRT2114907	hsa-miR-3689c	CLIP-seq
MIRT2114908	hsa-miR-3913-5p	CLIP-seq
MIRT1554093	hsa-miR-4649-5p	CLIP-seq
MIRT1554094	hsa-miR-4721	CLIP-seq
MIRT2114909	hsa-miR-4728-5p	CLIP-seq
MIRT2114910	hsa-miR-765	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	24429361
CEBPE	Repression	12202480
FOS	Repression	9988737
GATA1	Repression	10753833
GATA2	Repression	19620289
HOXC13	Repression	18076876
JUN	Activation	9988737
POU2F2	Unknown	12592383
RUNX1	Activation	12576332;18316480
SATB1	Activation	17694175

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	28362429
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	10867017
GO:0000785	Component	Chromatin	IDA	15304486
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	31146003
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	27506447
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20139074
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	28481873, 30718772, 31018969, 31314592
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	ISS
GO:0001216	Function	DNA-binding transcription activator activity	IDA	20139074
GO:0001217	Function	DNA-binding transcription repressor activity	IDA	20139074
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0002314	Process	Germinal center B cell differentiation	IEA
GO:0002316	Process	Follicular B cell differentiation	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IEA
GO:0002327	Process	Immature B cell differentiation	IEA
GO:0002357	Process	Defense response to tumor cell	IMP	28362429, 28481873, 30429596
GO:0002572	Process	Pro-T cell differentiation	IEA
GO:0002572	Process	Pro-T cell differentiation	ISS
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0002573	Process	Myeloid leukocyte differentiation	IMP	28111278
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	12833137, 27506447, 31018969
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	2180582, 10867017
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10207087, 18250304, 18692240, 20159610, 21575865, 26019275, 33951726
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20972335, 24504023, 33951726
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	24429361
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	31018969
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	29290617
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030225	Process	Macrophage differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030851	Process	Granulocyte differentiation	IEA
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0036462	Process	TRAIL-activated apoptotic signaling pathway	IMP	28362429
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0042826	Function	Histone deacetylase binding	ISS
GO:0043011	Process	Myeloid dendritic cell differentiation	IEA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	28362429
GO:0043314	Process	Negative regulation of neutrophil degranulation	IEA
GO:0043314	Process	Negative regulation of neutrophil degranulation	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	33951726
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045347	Process	Negative regulation of MHC class II biosynthetic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045579	Process	Positive regulation of B cell differentiation	IMP	33951726
GO:0045646	Process	Regulation of erythrocyte differentiation	IMP	12833137
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IEA
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	33951726
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	20139074
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12833137, 20139074, 27506447, 28481873
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	24429361, 27506447
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	28362429, 30718772, 31146003, 31314592
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0051525	Function	NFAT protein binding	IEA
GO:0051525	Function	NFAT protein binding	ISS
GO:0060033	Process	Anatomical structure regression	IEA
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	24429361, 28362429
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0070102	Process	Interleukin-6-mediated signaling pathway	IDA	24429361
GO:0071361	Process	Cellular response to ethanol	IEA
GO:0090402	Process	Oncogene-induced cell senescence	IEA
GO:0090402	Process	Oncogene-induced cell senescence	ISS
GO:0097677	Function	STAT family protein binding	IPI	24429361
GO:0098508	Process	Endothelial to hematopoietic transition	IEA
GO:0098508	Process	Endothelial to hematopoietic transition	ISS
GO:0120186	Process	Negative regulation of protein localization to chromatin	IEA
GO:0120186	Process	Negative regulation of protein localization to chromatin	ISS
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	27506447
GO:0140297	Function	DNA-binding transcription factor binding	ISS
GO:0140311	Function	Protein sequestering activity	IEA
GO:0140311	Function	Protein sequestering activity	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1900745	Process	Positive regulation of p38MAPK cascade	ISS
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IMP	28362429
GO:1902262	Process	Apoptotic process involved in blood vessel morphogenesis	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	20972335
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	ISS
GO:1904151	Process	Positive regulation of microglial cell mediated cytotoxicity	IEA
GO:1904151	Process	Positive regulation of microglial cell mediated cytotoxicity	ISS
GO:1904178	Process	Negative regulation of adipose tissue development	IEA
GO:1904178	Process	Negative regulation of adipose tissue development	ISS
GO:1904238	Process	Pericyte cell differentiation	IEA
GO:1904238	Process	Pericyte cell differentiation	ISS
GO:1905036	Process	Positive regulation of antifungal innate immune response	IEA
GO:1905036	Process	Positive regulation of antifungal innate immune response	ISS
GO:1905453	Process	Regulation of myeloid progenitor cell differentiation	IEA
GO:1905453	Process	Regulation of myeloid progenitor cell differentiation	ISS
GO:2000529	Process	Positive regulation of myeloid dendritic cell chemotaxis	IEA

Other IDs

• MIM: 165170
• HGNC: 11241
• e!Ensembl: ENSG00000066336

Protein

• UniProt ID: P17947
• Protein name: Transcription factor PU.1 (31 kDa-transforming protein)
• Protein function: Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control g
• PDB: 8E3K, 8E3R, 8E4H, 8E5Y, 8EBH, 8EE9, 8EJ6, 8EJ8, 8EK3, 8EK8, 8EKJ, 8EKU, 8EKV, 8EKZ, 8EM9, 8EMD, 8ENG, 8EO1, 8EO4, 8EQG, 8EQK, 8EQL, 8T9U, 8UFF, 8UFK, 8UFZ, 8UHK, 8V9N, 8VDH, 8VDI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00178	Ets	171 → 253	Ets-domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In the bone marrow, concentrated in hematopoietic stem cell, lymphoid progenitor, myeloid lineage (granulocyte macrophage progenitors, classical dendritic cells, monocytes) and B-cell clusters. Among B-cells, predominantly expressed in
• Sequence:

  MLQACKMEGFPLVPPPSEDLVPYDTDLYQRQTHEYYPYLSSDGESHSDHYWDFHPHHVHS
  EFESFAENNFTELQSVQPPQLQQLYRHMELEQMHVLDTPMVPPHPSLGHQVSYLPRMCLQ
  YPSLSPAQPSSDEEEGERQSPPLEVSDGEADGLEPGPGLLPGETGSKKKIRLYQFLLDLL
  RSGDMKDSIWWVDKDKGTFQFSSKHKEALAHRWGIQKGNRKKMTYQKMARALRNYGKTGE
  VKKVKKKLTYQFSGEVLGRGGLAERRHPPH

• Sequence length: 270

Pathways

KEGG:

Osteoclast differentiation
Human T-cell leukemia virus 1 infection
Pathways in cancer
Transcriptional misregulation in cancer
Acute myeloid leukemia

Reactome:

Transcriptional regulation of granulopoiesis

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Agammaglobulinemia	Agammaglobulinemia 10, autosomal dominant, agammaglobulinemia	rs2095906547, rs2095906404, rs1565638431	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Hypertension	Hypertension	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Kidney Disease	Chronic kidney disease	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	16938118
Acrocephalosyndactylia	Stimulate	24453425
Adenocarcinoma of Lung	Associate	28388536, 35675043
Agammaglobulinemia	Associate	33951726
Alcoholism	Associate	34417470
Alzheimer Disease	Associate	29482603, 30124174, 32152295, 33712570, 34103633, 35253752, 35383839, 35436980, 35715361, 35931864, 36550123, 37253165, 37735671, 37774680, 40037709
Amyotrophic Lateral Sclerosis 2 Juvenile	Associate	30224357
Aortic Aneurysm Abdominal	Associate	34814367
Arthritis	Stimulate	29979448
Arthritis Rheumatoid	Associate	24213554, 27671860, 30123050, 31785408
Asthma	Associate	20426528, 26466682
Astrocytoma	Associate	22231733
Ataxia	Associate	34635923
Ataxia Telangiectasia	Associate	17786248, 2136770
Atherosclerosis	Associate	34020127
Atrial Fibrillation	Associate	36653368
Atypical Hemolytic Uremic Syndrome	Associate	16533809
Autoimmune Diseases	Associate	33863903
Breast Neoplasms	Associate	28791367, 8955125
Cancer Pain	Associate	34670213
Carcinogenesis	Associate	19587786, 25070814, 37539493
Carcinoma Hepatocellular	Associate	25987019, 31754332
Carcinoma Non Small Cell Lung	Associate	32590190
Carcinoma Renal Cell	Associate	17898043
Cardiomyopathy Hypertrophic	Associate	34362365
Carotid Artery Diseases	Associate	36316672
Charcot Marie Tooth disease Type 1C	Associate	38267482
Colitis Ulcerative	Associate	34718239, 37904419
Colorectal Neoplasms	Associate	34841706
Colorectal Neoplasms	Stimulate	35627268
COVID 19	Associate	34020127, 35998224, 36052061
Crohn Disease	Associate	35212366
Cystic Fibrosis	Associate	18628981
Cytokine Release Syndrome	Associate	17200120
Death	Inhibit	35115574
Death	Stimulate	36560750
Dendritic Cell Sarcoma Follicular	Stimulate	18272816
Depression Postpartum	Associate	34856750
Depressive Disorder Major	Associate	32152295
Dermatitis Atopic	Stimulate	24032555
Dermatitis Atopic 1	Stimulate	20426528
Diabetes Mellitus Permanent Neonatal	Associate	17668386
Diabetes Mellitus Type 2	Associate	31785408, 34351816
Endometrial Neoplasms	Associate	36702668
Endometriosis	Associate	36702668
Epilepsy	Associate	15805193, 37385334
Epilepsy Benign Neonatal	Associate	23065794
Esophageal Neoplasms	Associate	32884895
Esophageal Squamous Cell Carcinoma	Associate	32884895, 37796690
Fibrosarcoma	Associate	9743289
Fibrosis	Stimulate	21349926
Giant Cell Arteritis	Associate	35045965
Glioblastoma	Associate	25514975, 28351321, 37351164
Glioma	Associate	37219874, 37351164
Glomerulonephritis IGA	Associate	34635923
Gout	Associate	29879923
Granulomatous Disease Chronic	Associate	10233904, 11926990, 8639802, 9600921
Hamartoma Syndrome Multiple	Associate	21177507
Heart Defects Congenital	Associate	26044615
Heart Diseases	Associate	23515276
Hematologic Neoplasms	Associate	20139074, 25726525
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30206415
Hereditary leiomyomatosis and renal cell cancer	Associate	11929801, 20016960, 27166193
Hereditary leiomyomatosis and renal cell cancer	Stimulate	16304050
HIV Infections	Associate	11689637, 24391808, 35766490
Hodgkin Disease	Associate	11929801, 27166193
Hodgkin Disease	Inhibit	16304050
Hypertriglyceridemia	Stimulate	17660701
Hypoparathyroidism	Associate	30496603
Hypoxia	Stimulate	25967976
Idiopathic Pulmonary Fibrosis	Associate	21349926
Infarction	Stimulate	34609434
Infections	Associate	36560750
Infectious Mononucleosis	Stimulate	36154925
Inflammation	Associate	26466682, 28440496, 34296479, 36550123
Inflammation	Inhibit	32127288
Inflammatory Bowel Diseases	Associate	34948292, 35212366
Intellectual Disability	Associate	37385334
Jensen syndrome	Associate	23065794
Kidney Diseases	Associate	21360505
Kidney Failure Chronic	Associate	23515276
Leukemia	Associate	19587786, 19825991, 20139074, 21176776, 21789226, 30049824, 35743167, 36065607, 8639791
Leukemia Biphenotypic Acute	Associate	24769646
Leukemia Erythroblastic Acute	Associate	11023493, 27010793, 7670114
Leukemia Monocytic Acute	Associate	10765922, 22569057
Leukemia Myeloid	Associate	16115123, 30049824, 34714913, 36065607
Leukemia Myeloid Acute	Associate	12130514, 14592841, 19890096, 20139074, 21360505, 22569057, 23547873, 23823656, 24991767, 26466521, 27010793, 27617961, 27626703, 28362429, 29743969, 30315124, 33741901, 34010414, 35590033, 35743167, 36644997
Leukemia Promyelocytic Acute	Associate	20159610, 22498738, 23547873, 24038216, 26673819, 29532991
Leukemia Promyelocytic Acute	Inhibit	22569057, 27146823
Leukemia T Cell	Associate	24223100, 26126967
Liver Cirrhosis	Associate	29742149
Liver Cirrhosis Biliary	Associate	30123050
Lung Neoplasms	Associate	27669169
Lupus Erythematosus Systemic	Associate	21360505, 24213554, 29979448, 36690410
Lymphedema	Associate	11841448
Lymphoma	Associate	16735999, 16778825, 19828640
Lymphoma B Cell	Associate	12507907, 21504384, 33426808
Lymphoma B Cell Marginal Zone	Associate	16778825
Lymphoma Large Cell Anaplastic	Associate	30206415
Lymphoma Mantle Cell	Associate	18765533
Lymphoma Non Hodgkin	Associate	39340957
Macular Degeneration	Associate	16533809
Malaria	Associate	23614351
Melanoma	Associate	22379099, 28273108, 31308438, 37539493
Memory Disorders	Stimulate	28582280
Metabolic Syndrome	Associate	17660701
Moyamoya disease 1	Associate	34609434
Mucocutaneous Lymph Node Syndrome	Associate	34290221, 36536067
Multiple Myeloma	Associate	19749795, 19828640, 35315341
Multiple Myeloma	Inhibit	7670114
Myelodysplastic Syndromes	Associate	22012064
Myocardial Infarction	Associate	35864510
Myositis	Stimulate	2765363
Nasopharyngeal Carcinoma	Associate	30935420
Neoplasm Metastasis	Inhibit	25987019
Neoplasm Metastasis	Associate	34841706, 35078433, 37539493, 37796690
Neoplasms	Associate	12130514, 15713679, 17855368, 19837127, 21423213, 21789226, 21807633, 22379099, 2765363, 32884895, 34714913, 34718239, 34841706, 35745070, 37219874
Neoplasms	Inhibit	17200120, 19479822, 28362429, 33741901
Neuroinflammatory Diseases	Associate	30124174
Neutropenia	Associate	19965623
Ossification Heterotopic	Associate	35065610
Osteoarthritis	Associate	22688823, 27866912, 36960385
Osteoporosis	Associate	36311708
Osteosarcoma	Associate	22379099, 34296479, 35078433
Pancreatic Neoplasms	Associate	24867695, 33099939
Parathyroid Neoplasms	Associate	7906387
Parkinson Disease	Associate	22291025
Peripheral Nervous System Diseases	Associate	34635923
Peroneal Neuropathies	Associate	30235672
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	16735999, 26126967, 29532991
Progeroid syndrome neonatal	Associate	31695177
Prostatic Neoplasms	Associate	17855368, 9446667
Pulmonary Alveolar Proteinosis	Inhibit	12896880
Pulmonary Disease Chronic Obstructive	Associate	39969348
Purpura Thrombocytopenic Idiopathic	Associate	27662073
Renal Insufficiency Chronic	Associate	34351816
Reperfusion Injury	Associate	31115025
Rhinitis Allergic	Stimulate	26708394
Schizophrenia	Associate	22291025
Seizures	Associate	23065794
Seminoma	Associate	31965022
Spondylitis Ankylosing	Associate	35065610
Squamous Cell Carcinoma of Head and Neck	Associate	33361747, 35664436
Stomach Neoplasms	Associate	19479822, 25070814, 34738863, 36967718
Syndactyly type v	Associate	23065794
Thyroiditis Autoimmune	Associate	1829139
Trigger Finger Disorder	Associate	36065607
Triple Negative Breast Neoplasms	Associate	31767884
Tuberculosis	Associate	25329476
Venous Thromboembolism	Associate	33388092
Virus Diseases	Associate	35998224
Waldenstrom Macroglobulinemia	Associate	32457988, 34462944