Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	5698
Gene name	Proteasome 20S subunit beta 9
Gene symbol	PSMB9
Synonyms (NCBI Gene)	LMP2PRAAS3PRAAS6PSMB6iRING12beta1i
Chromosome	6
Chromosome location	6p21.32
Summary	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta

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SNP ID	Visualize variation	Clinical significance	Consequence
rs369359789	G>A	Pathogenic	Missense variant, coding sequence variant

101

Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT683914	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT683913	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT683912	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT683911	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT683910	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT683909	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT683908	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT683907	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT683906	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT683905	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT683904	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT683903	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT683902	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT683901	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT683900	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT683899	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT683898	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT683897	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT683896	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT683895	hsa-miR-498	HITS-CLIP	23313552
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508790	hsa-miR-29b-2-5p	PAR-CLIP	23446348
MIRT508788	hsa-miR-659-3p	PAR-CLIP	23446348
MIRT508787	hsa-miR-129-5p	PAR-CLIP	23446348
MIRT683914	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT683913	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT683912	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT683911	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT683910	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT683909	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT683908	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT683907	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT683906	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT683905	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT683904	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT683903	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT683902	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT683901	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT683900	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT683899	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT683898	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT683897	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT683896	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT683895	hsa-miR-498	HITS-CLIP	23313552
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508790	hsa-miR-29b-2-5p	PAR-CLIP	23446348
MIRT508788	hsa-miR-659-3p	PAR-CLIP	23446348
MIRT508787	hsa-miR-129-5p	PAR-CLIP	23446348
MIRT2602938	hsa-miR-1224-3p	CLIP-seq
MIRT2602939	hsa-miR-125a-5p	CLIP-seq
MIRT2602940	hsa-miR-125b	CLIP-seq
MIRT2602941	hsa-miR-1291	CLIP-seq
MIRT2602942	hsa-miR-328	CLIP-seq
MIRT2602943	hsa-miR-3663-3p	CLIP-seq
MIRT2602944	hsa-miR-3913-3p	CLIP-seq
MIRT2602945	hsa-miR-4266	CLIP-seq
MIRT2602946	hsa-miR-4287	CLIP-seq
MIRT2602947	hsa-miR-4319	CLIP-seq
MIRT2602948	hsa-miR-4469	CLIP-seq
MIRT2602949	hsa-miR-4685-3p	CLIP-seq
MIRT2602950	hsa-miR-4695-5p	CLIP-seq
MIRT2602951	hsa-miR-4732-3p	CLIP-seq
MIRT2602952	hsa-miR-4779	CLIP-seq
MIRT2602953	hsa-miR-489	CLIP-seq
MIRT2602954	hsa-miR-591	CLIP-seq
MIRT2602955	hsa-miR-670	CLIP-seq
MIRT2602938	hsa-miR-1224-3p	CLIP-seq
MIRT2602939	hsa-miR-125a-5p	CLIP-seq
MIRT2602940	hsa-miR-125b	CLIP-seq
MIRT2602941	hsa-miR-1291	CLIP-seq
MIRT2602942	hsa-miR-328	CLIP-seq
MIRT2602943	hsa-miR-3663-3p	CLIP-seq
MIRT2602944	hsa-miR-3913-3p	CLIP-seq
MIRT2602945	hsa-miR-4266	CLIP-seq
MIRT2602946	hsa-miR-4287	CLIP-seq
MIRT2602947	hsa-miR-4319	CLIP-seq
MIRT2602948	hsa-miR-4469	CLIP-seq
MIRT2602949	hsa-miR-4685-3p	CLIP-seq
MIRT2602950	hsa-miR-4695-5p	CLIP-seq
MIRT2602951	hsa-miR-4732-3p	CLIP-seq
MIRT2602952	hsa-miR-4779	CLIP-seq
MIRT2602953	hsa-miR-489	CLIP-seq
MIRT2688856	hsa-miR-520d-5p	CLIP-seq
MIRT2688857	hsa-miR-524-5p	CLIP-seq
MIRT2688858	hsa-miR-556-3p	CLIP-seq
MIRT2602954	hsa-miR-591	CLIP-seq
MIRT2602955	hsa-miR-670	CLIP-seq

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Transcription factor	Regulation	Reference
IRF1	Activation	18694960
IRF1	Unknown	10764778;10921891;16703666;9632673
NFKB1	Unknown	18694960
RELA	Unknown	18694960
SEC14L2	Unknown	7699330
STAT1	Unknown	10764778;10921891;16703666;9632673

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	TAS	8666937
GO:0002376	Process	Immune system process	IEA
GO:0004175	Function	Endopeptidase activity	IBA
GO:0004298	Function	Threonine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14733938, 16957778, 18985028, 20723761, 28514442, 30833792, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IEA
GO:0005839	Component	Proteasome core complex	ISS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019774	Component	Proteasome core complex, beta-subunit complex	IBA
GO:0019774	Component	Proteasome core complex, beta-subunit complex	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1990111	Component	Spermatoproteasome complex	ISS

MIM	HGNC	e!Ensembl
177045	9546	ENSG00000240065

P28065

Protein name

Proteasome subunit beta type-9 (EC 3.4.25.1) (Low molecular mass protein 2) (Macropain chain 7) (Multicatalytic endopeptidase complex chain 7) (Proteasome chain 7) (Proteasome subunit beta-1i) (Really interesting new gene 12 protein)

Protein function

The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (PubMed:33727065, PubMed:34819510). The

PDB

6AVO , 6E5B , 7AWE , 7B12 , 9FST

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00227	Proteasome	17 → 198	Proteasome subunit	Domain

Sequence

MLRAGAPTGDLPRAGEVHTGTTIMAVEFDGGVVMGSDSRVSAGEAVVNRVFDKLSPLHER
IYCALSGSAADAQAVADMAAYQLELHGIELEEPPLVLAAANVVRNISYKYREDLSAHLMV
AGWDQREGGQVYGTLGGMLTRQPFAIGGSGSTFIYGYVDAAYKPGMSPEECRRFTTDAIA
LAMSRDGSSGGVIYLVTITAAGVDHRVILGNELPKFYDE

Sequence length

219

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Proteasome-associated autoinflammatory syndrome 6	Pathogenic	rs2127399518	RCV004556086	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID)	Pathogenic	rs2127399518	RCV001732235	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (34)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteasome-associated autoinflammatory syndrome 3	Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSMB9-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (166)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrodermatitis	Dermatitis	CTD_human_DG	27258892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	24377540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23628820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	29315015, 30396848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	20153157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	10648037, 22034108, 31702633, 7763114, 8311558, 9306872, 9348140		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	Pubtator	7763114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32998980, 39342401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	8978963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	8730138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32867763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	8564949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16414974, 23504381, 30279279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24040045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30859354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35037412	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36746983, 36766731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	25463610, 28465297, 35408790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27993616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37986152	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	30909665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22261389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34957503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22705098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23024775	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24374040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	28934294	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	18248301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	23024775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18248301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	37762439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30279279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12519221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24040045, 34162701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	20300807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	19217658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12738726, 9815722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17124531, 19274467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	23266558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	31305436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	27258892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	39447013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	7847389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36527108	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	7847389, 7911550, 9250458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23628820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	8730138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	25343742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	25343742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23283737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23283737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29073155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	21203912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	27566410	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	16855371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	20671118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gianotti-Crosti Syndrome	Gianotti-Crosti Syndrome	CTD_human_DG	27258892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16101128, 23526983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23526983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23526983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	34861820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10468973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	19924240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24377540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11241300, 12468425, 15235393, 16276512, 29315015, 30396848, 7515326, 7632957, 9120290, 9259400, 9746788, 9774558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	11241300, 16332968, 7632957, 7693972, 9746788, 9774558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	19217658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	BEFREE	19217658		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	19217658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	29155844	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	21821548	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	15686587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis vulgaris	Pubtator	25548428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31804556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29679638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	7955621, 8730138		★★★★★ ★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	21203912, 22355695, 22659265, 27798858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	22355695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24056819, 24377540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24377540		★★★★★ ★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	21203912, 22355695, 22659265, 27798858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19167523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19167523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31171475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	31638917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17471168, 24344220, 27873282		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	9490694	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Extranodal NK-T-Cell	Lymphoma	BEFREE	29761078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	24344220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	24344220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	21896011, 23346186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30859354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23283737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22261389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24374040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22677907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10458773, 14973049, 16842756, 18574467, 19002111, 20671118, 24040045, 24714353, 26428374, 28373439, 28977958, 29738610, 30251028, 30396848, 9120290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18248301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	23990113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10079252, 23360169, 32060274, 9632673	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	23360169, 9052759, 9632673		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	23690996, 28569178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37433777	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24377540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24377540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20174631		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20174631	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	Pubtator	25098831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	37153570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nakajo syndrome	Nakajo Syndrome	GENOMICS_ENGLAND_DG	26524591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11241300, 12468425, 1313894, 1313931, 18087217, 18663567, 19493466, 19723890, 19881953, 21668364, 21821548, 23689138, 24109232, 25711537, 29052133 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	11241300, 1313894, 14694109, 16332968, 18087217, 19881953, 21039050, 21821548, 22051182, 22837212, 24109232, 33771238, 34257379, 7693972, 8396685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	21039050, 33771238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11070168, 1313894, 1313931, 14694109, 15375491, 19924240, 20671118, 22355695, 22677907, 24109232, 24344220, 28243335, 29073155, 29315015, 29570629, 30251028, 8803612, 9170499 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	1313931, 23689138, 24109232, 8112882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32805449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22249249, 24374040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22249249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24040045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27098790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27098790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	19924240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22677907		★★★★★ ★☆☆☆☆ Found in Text Mining only
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	Proteasome-associated autoinflammatory syndrome	UNIPROT_DG	26524591		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Psoriasis	Psoriasis	BEFREE	17581627		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	17581627		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12738726, 9815722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	14983503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9536820		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	8882407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	30249265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	16414974, 37153570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	8803612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	22034108, 9306872, 9496154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	22034108, 7763114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23283737, 29073155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19002111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	23628820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36746983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	27566410	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	39716185	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23024775	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28639897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37986152	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	21203912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	9496154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	7763114, 9306872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	25548428, 28129744, 28207947		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	25548428, 28129744	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	25548428, 28129744, 28207947		★★★★★ ★☆☆☆☆ Found in Text Mining only

PSMB9 (proteasome 20S subunit beta 9)