PSMB8 (proteasome 20S subunit beta 8)

Gene

• Entrez ID: 5696
• Gene name: Proteasome 20S subunit beta 8
• Gene symbol: PSMB8
• Synonyms (NCBI Gene): ALDD, D6S216, D6S216E, JMP, LMP7, NKJO, PRAAS1, PSMB5i, RING10
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906680	C>A,T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029309	hsa-miR-26b-5p	Microarray	19088304
MIRT733492	hsa-miR-451a	qRT-PCR, Western blotting	34112884
MIRT733492	hsa-miR-451a	qRT-PCR	32478410

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	26524591
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	15303969, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
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:0019882	Process	Antigen processing and presentation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	IMP	21881205
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1990111	Component	Spermatoproteasome complex	IEA
GO:1990111	Component	Spermatoproteasome complex	ISS

Other IDs

• MIM: 177046
• HGNC: 9545
• e!Ensembl: ENSG00000204264

Protein

• UniProt ID: P28062
• Protein name: Proteasome subunit beta type-8 (EC 3.4.25.1) (Low molecular mass protein 7) (Macropain subunit C13) (Multicatalytic endopeptidase complex subunit C13) (Proteasome component C13) (Proteasome subunit beta-5i) (Really interesting new gene 10 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. The proteasome has an ATP-dependent pr
• PDB: 5L5A, 5L5B, 5L5D, 5L5E, 5L5F, 5L5H, 5L5I, 5L5J, 5L5O, 5L5P, 5L5Q, 5L5R, 5L5S, 5L5T, 5L5U, 5L5V, 5LTT, 5M2B, 6AVO, 6E5B, 7AWE, 7B12
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00227	Proteasome	69 → 251	Proteasome subunit	Domain

• Sequence:

  MALLDVCGAPRGQRPESALPVAGSGRRSDPGHYSFSMRSPELALPRGMQPTEFFQSLGGD
  GERNVQIEMAHGTTTLAFKFQHGVIAAVDSRASAGSYISALRVNKVIEINPYLLGTMSGC
  AADCQYWERLLAKECRLYYLRNGERISVSAASKLLSNMMCQYRGMGLSMGSMICGWDKKG
  PGLYYVDEHGTRLSGNMFSTGSGNTYAYGVMDSGYRPNLSPEEAYDLGRRAIAYATHRDS
  YSGGVVNMYHMKEDGWVKVESTDVSDLLHQYREANQ

• Sequence length: 276

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
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs2127377117	RCV002264415	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteasome-associated autoinflammatory syndrome 1	Likely pathogenic; Pathogenic	rs763314828, rs895985294, rs1359687163, rs387906680, rs146254972, rs1554239543, rs748082671, rs374929612	RCV003989259 RCV004515817 RCV004515818 RCV000022739 RCV000022741 RCV000663374 RCV000816894 RCV001224235	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	Pathogenic	rs748082671	RCV000663373	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteosome-associated autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs2127377117, rs2483095040, rs1582609458, rs2483096056, rs2483087076, rs1312431639, rs146254972, rs748082671, rs1769913209	RCV003762021 RCV003764014 RCV003597148 RCV003762500 RCV003762683 RCV003763371 RCV003595858 RCV003596608 RCV003763832	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PSMB8-related disorder	Pathogenic	rs748082671	RCV003411802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANDLE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMB8-related dominant condition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	31874111	Associate	★☆☆☆☆ 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
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	21129723, 21953331	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	19404951		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30797047		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30797047		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30642978		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29042581		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	8978963		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35524249	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29042581		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30571551, 31629736		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16414974, 21804012, 28700671, 29034459, 30279279		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28700671	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	16414974	Associate	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	21852578		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	21953331		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	8960913		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29510614		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29510614, 36746983, 36766731	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	28465297	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	7774641		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25556465	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36062301	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23024775	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24374040		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18248301		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	23024775		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17366619, 18248301		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	37762439	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30279279		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22037870		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12519221		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12694570, 28721901, 28881611		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	15104675		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	21129723, 21953331	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11059775, 12738726		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal neovascularization	Pubtator	36579659	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	31305436	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	39273140	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34669152	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	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11793848, 21804012, 7847389		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27213585		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27213585	Associate	★☆☆☆☆ Found in Text Mining only
Episcleritis	Episcleritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15774487, 23283737, 25556465		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23283737, 25556465		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25556465	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25556465, 29073155	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	29451304	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16101128, 26313662, 30356407	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30356407		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29428669		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31812014	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	28929317	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	28929317	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10468973		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24377540		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	29155844	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30472885		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29155844	Inhibit	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	GWASCAT_DG	25305756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune system disease	Pubtator	26524591	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22710419	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	GWASDB_DG	21399633		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	GWASCAT_DG	21399633		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19671918	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36737692	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29759483, 29775672		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	29775672	Stimulate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	21129723, 21865368, 21881205, 21953331		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	21953331	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27726464		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	25889472, 31171475		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	25889472	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	31638917	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26894977, 29510614	Stimulate	★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29510614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23283737, 25556465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29451304		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24374040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16541432, 26894977		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22037870, 28881574, 28977958, 29464093		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18248301		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22037870		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10079252, 32060274	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28688464		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	30526079		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19671918	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24377540		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	29157944		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36619896	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	25098831	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	11793848		★☆☆☆☆ Found in Text Mining only
Nakajo syndrome	Nakajo Syndrome	BEFREE	21129723, 21852578, 21953331, 22441638, 23942189, 26567544, 29731430		★☆☆☆☆ Found in Text Mining only
Nakajo syndrome	Nakajo Syndrome	ORPHANET_DG	21129723, 21852578, 21953331		★☆☆☆☆ Found in Text Mining only
Nakajo syndrome	Nakajo Syndrome	GENOMICS_ENGLAND_DG	21953331		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12694570, 24374040, 25556465, 28881574, 28881611, 29073155, 29428669, 29510614		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24374040, 29451304		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36739404	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	21129723, 21953331	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	BEFREE	21953331		★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28688464, 29759483		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19820934	Associate	★☆☆☆☆ Found in Text Mining only
Proteasome-associated autoinflammatory syndrome	Proteasome-associated autoinflammatory syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1	Proteasome-associated autoinflammatory syndrome	GENOMICS_ENGLAND_DG	20534754, 21129723, 21953331		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1	Proteasome-associated autoinflammatory syndrome	UNIPROT_DG	21129723, 21852578, 21881205, 21953331, 26524591, 26567544		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1	Proteasome-associated autoinflammatory syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1	Proteasome-associated autoinflammatory syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proteinuria	Proteinuria	Pubtator	19037255	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	17581627		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	17581627		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	39273140	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	28721901		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11059775, 12738726		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9536820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	8960913, 9458120		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	33922041	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	28628607	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	16646031, 27332624	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	8803612		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23283737, 29073155		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16541432, 26894977		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16541432	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26894977, 31949544	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32423906, 36746983	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33289830	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23024775	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17622526, 23024775, 28639897	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	28129744, 28207947, 28700671		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	28129744, 28700671	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	28129744, 28207947, 28700671		★☆☆☆☆ Found in Text Mining only