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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Agammaglobulinemia	Pathogenic; Likely pathogenic	rs2095916574, rs1565638431, rs2095906547, rs2095906404, rs773877800, rs2142884393	RCV005232672 RCV005231303 RCV005232019 RCV005232018 RCV005232231 RCV005232232	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Agammaglobulinemia 10, autosomal dominant	Pathogenic; Likely pathogenic	rs2095916574, rs2495795874, rs1565638431, rs2095906547, rs2095906404, rs773877800, rs2142884393	RCV001822090 RCV004017196 RCV001816741 RCV001819692 RCV002260124 RCV001819970 RCV001819971	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PU.1-mutated agammaglobulinemia	Pathogenic; Likely pathogenic	rs1565638431, rs2095916574, rs2095906547, rs2095906404, rs773877800, rs2142884393	RCV001172537 RCV001172540 RCV001172539 RCV001172538 RCV001353141 RCV001353142	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL NON-SYNDROMIC AGAMMAGLOBULINEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	12894591, 1406633, 16338660, 1693183, 17374502, 2338340, 28912174, 7670114, 8336942, 8502483, 9312023		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia	Erythroleukemia	BEFREE	17132716		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21390130		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	26237430		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	26237430		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	16352814		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	30412053		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15796964		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	33951726	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alzheimer Disease	Alzheimer disease	Pubtator	29482603, 30124174, 32152295, 33712570, 34103633, 35253752, 35383839, 35436980, 35715361, 35931864, 36550123, 37253165, 37735671, 37774680, 40037709	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29777097		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis 2 Juvenile	Amyotrophic lateral sclerosis	Pubtator	30224357	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	34814367	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31017267		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	29979448	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24213554, 27671860, 30123050, 31785408	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	20426528, 26466682	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	22231733	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34635923	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	17786248, 2136770	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31017267		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	34020127	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36653368	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	16533809	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	33863903	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	15339679		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28791367, 8955125	Associate	★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	34670213	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19587786, 25070814, 37539493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25987019, 31754332	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17898043	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34362365	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	36316672	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	34718239, 37904419	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34841706	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35627268	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35212366	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	18628981	Associate	★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	34856750	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32152295	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	24032555	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	20426528	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	17668386	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31785408, 34351816	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	17433759, 31182435		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36702668	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36702668	Associate	★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	31428589		★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	18272702		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	15805193, 37385334	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	23065794	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32884895	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32884895, 37796690	Associate	★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	18272702		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	21206750		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	35045965	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25514975, 28351321, 37351164	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29467892		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37219874, 37351164	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	34635923	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	29879923	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	10233904, 11926990, 8639802, 9600921	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26044615	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23515276	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	20139074, 25726525	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22664110		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30206415	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	11929801, 15339679, 15796964		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	11929801, 27166193	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15796964		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	16304050	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	17660701	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	30496603	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25967976	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	21349926	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34948292, 35212366	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37385334	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21360505	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23515276	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17145601, 21664289, 24498324, 26237430, 26851695, 28415748, 28912174, 9398659		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18308386		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19587786, 19825991, 20139074, 21176776, 21789226, 30049824, 35743167, 36065607, 8639791	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	16115123, 30049824, 34714913, 36065607	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12130514, 14592841, 19890096, 20139074, 21360505, 22569057, 23547873, 23823656, 24991767, 26466521, 27010793, 27617961, 27626703, 28362429, 29743969, 30315124, 33741901, 34010414, 35590033, 35743167, 36644997	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	20159610, 22498738, 23547873, 24038216, 26673819, 29532991	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	22569057, 27146823	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	17361223		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12130514, 17694175		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15146183, 17041602, 21878674, 22664110, 25750172, 26055960, 26851695, 28912174, 30555023, 31646336, 9885975		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	26237430		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29742149	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	30123050	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27669169	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21360505, 24213554, 29979448, 36690410	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21360505		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	11841448	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16735999, 16778825, 19828640	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	16533809	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22379099, 28273108, 31308438, 37539493	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	28582280	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17660701	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	Pubtator	34609434	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	34290221, 36536067	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19749795, 19828640, 35315341	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	7670114	Inhibit	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22012064	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	12393465		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	17361223		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	21878674		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	18635311		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35864510	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	Pubtator	2765363	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30935420	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1693183, 21807633, 28791367, 28912174, 9885975		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	22562244		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	19965623	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29755291		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22688823, 27866912, 36960385	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29755291		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36311708	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22379099, 34296479, 35078433	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24867695, 33099939	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	7906387	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22291025	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	34635923	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	22733019, 28671687		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	28671687		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17855368, 9446667	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	12896880	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39969348	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	26708394	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	22291025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	23065794	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	31965022	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	35065610	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33361747, 35664436	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19479822, 25070814, 34738863, 36967718	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly type v	Syndactyly	Pubtator	23065794	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	1829139	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31767884	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	33388092	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	31018969		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	32457988, 34462944	Associate	★☆☆☆☆ Found in Text Mining only