TRIM21 (tripartite motif containing 21)

Gene

• Entrez ID: 6737
• Gene name: Tripartite motif containing 21
• Gene symbol: TRIM21
• Synonyms (NCBI Gene): RNF81, RO52, Ro/SSA, SSA, SSA1
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which in

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT573233	hsa-miR-759	PAR-CLIP	20371350
MIRT573232	hsa-miR-6124	PAR-CLIP	20371350
MIRT573231	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT573229	hsa-miR-4271	PAR-CLIP	20371350
MIRT573230	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT573228	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT573227	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT573226	hsa-miR-203a-5p	PAR-CLIP	20371350
MIRT573225	hsa-miR-1206	PAR-CLIP	20371350
MIRT573224	hsa-miR-2110	PAR-CLIP	20371350
MIRT573233	hsa-miR-759	PAR-CLIP	20371350
MIRT573232	hsa-miR-6124	PAR-CLIP	20371350
MIRT573231	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT573229	hsa-miR-4271	PAR-CLIP	20371350
MIRT573230	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT573228	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT573227	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT573226	hsa-miR-203a-5p	PAR-CLIP	20371350
MIRT573225	hsa-miR-1206	PAR-CLIP	20371350
MIRT573224	hsa-miR-2110	PAR-CLIP	20371350
MIRT1453249	hsa-miR-1207-5p	CLIP-seq
MIRT1453250	hsa-miR-1827	CLIP-seq
MIRT1453251	hsa-miR-4763-3p	CLIP-seq
MIRT1453252	hsa-miR-583	CLIP-seq
MIRT1453253	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	23391827
RELA	Unknown	23391827

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0000209	Process	Protein polyubiquitination	IDA	16297862
GO:0000932	Component	P-body	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	23077300
GO:0003723	Function	RNA binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	16297862, 16472766, 16880511, 18845142, 19675099
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	8666824, 11461834, 16880511, 19675099, 22493164, 25416956, 26347139, 26618866, 29261807, 29924966, 31324722, 31540324, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	18845142
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IC	36359729
GO:0005737	Component	Cytoplasm	IDA	16316627, 18845142
GO:0005737	Component	Cytoplasm	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006513	Process	Protein monoubiquitination	IDA	16297862, 19675099
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	37816088
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010494	Component	Cytoplasmic stress granule	IDA	36692217
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	36359729
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0010508	Process	Positive regulation of autophagy	IMP	26347139
GO:0016567	Process	Protein ubiquitination	IDA	16472766, 16880511, 18845142
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	16880511
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031648	Process	Protein destabilization	IMP	16880511
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	19675099
GO:0032092	Process	Positive regulation of protein binding	IMP	26342464
GO:0032479	Process	Regulation of type I interferon production	TAS
GO:0032897	Process	Negative regulation of viral transcription	IDA	18248090
GO:0034063	Process	Stress granule assembly	IDA	32302570, 32302571
GO:0034341	Process	Response to type II interferon	IDA	26347139
GO:0035617	Process	Stress granule disassembly	IDA	36692217
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	17156811, 22493164, 22829933, 25416956, 32296183
GO:0044314	Process	Protein K27-linked ubiquitination	IDA	26342464
GO:0044790	Process	Suppression of viral release by host	IDA	18248090
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	18248090
GO:0045787	Process	Positive regulation of cell cycle	IMP	16880511
GO:0045824	Process	Negative regulation of innate immune response	IDA	26342464
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046598	Process	Positive regulation of viral entry into host cell	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051865	Process	Protein autoubiquitination	IDA	16880511
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	26342464, 36359729, 36426955, 36692217, 36943869, 37816088
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0062197	Process	Cellular response to chemical stress	TAS
GO:0070269	Process	Pyroptotic inflammatory response	IDA	35594856, 36426955
GO:0070269	Process	Pyroptotic inflammatory response	IDA	36426955
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	36692217, 37816088
GO:0070534	Process	Protein K63-linked ubiquitination	IMP	26342464
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	36359729
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	36426955
GO:0090086	Process	Negative regulation of protein deubiquitination	IMP	16472766
GO:0140374	Process	Antiviral innate immune response	IDA	27992402
GO:0140374	Process	Antiviral innate immune response	IDA	36943869
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IDA	37816088
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990904	Component	Ribonucleoprotein complex	TAS	7832745

Other IDs

• MIM: 109092
• HGNC: 11312
• e!Ensembl: ENSG00000132109

Protein

• UniProt ID: P19474
• Protein name: E3 ubiquitin-protein ligase TRIM21 (EC 2.3.2.27) (52 kDa Ro protein) (52 kDa ribonucleoprotein autoantigen Ro/SS-A) (RING finger protein 81) (Ro(SS-A)) (Sjoegren syndrome type A antigen) (SS-A) (Tripartite motif-containing protein 21)
• Protein function: E3 ubiquitin-protein ligase whose activity is dependent on E2 enzymes, UBE2D1, UBE2D2, UBE2E1 and UBE2E2 (PubMed:16297862, PubMed:16316627, PubMed:16472766, PubMed:16880511, PubMed:18022694, PubMed:18361920, PubMed:18641315, PubMed:18845142, Pub
• PDB: 2IWG, 5JPX, 5OLM, 6FGA, 6S53, 7BBD, 8A58, 8Y58, 8Y59, 8Y5B, 9QBA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15227	zf-C3HC4_4	16 → 56		Domain
  PF00643	zf-B_box	87 → 128	B-box zinc finger	Domain
  PF13765	PRY	289 → 337	SPRY-associated domain	Family
  PF00622	SPRY	341 → 461	SPRY domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in fetal and adult heart and fetal lung.
• Sequence:

  MASAARLTMMWEEVTCPICLDPFVEPVSIECGHSFCQECISQVGKGGGSVCPVCRQRFLL
  KNLRPNRQLANMVNNLKEISQEAREGTQGERCAVHGERLHLFCEKDGKALCWVCAQSRKH
  RDHAMVPLEEAAQEYQEKLQVALGELRRKQELAEKLEVEIAIKRADWKKTVETQKSRIHA
  EFVQQKNFLVEEEQRQLQELEKDEREQLRILGEKEAKLAQQSQALQELISELDRRCHSSA
  LELLQEVIIVLERSESWNLKDLDITSPELRSVCHVPGLKKMLRTCAVHITLDPDTANPWL
  ILSEDRRQVRLGDTQQSIPGNEERFDSYPMVLGAQHFHSGKHYWEVDVTGKEAWDLGVCR
  DSVRRKGHFLLSSKSGFWTIWLWNKQKYEAGTYPQTPLHLQVPPCQVGIFLDYEAGMVSF
  YNITDHGSLIYSFSECAFTGPLRPFFSPGFNDGGKNTAPLTLCPLNIGSQGSTDY

• Sequence length: 475

Pathways

KEGG:

Systemic lupus erythematosus

Reactome:

STING mediated induction of host immune responses
Regulation of innate immune responses to cytosolic DNA
Interferon gamma signaling
Antigen processing: Ubiquitination & Proteasome degradation

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	29853879, 31055976		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	17122504, 22490521, 22510757, 23639600, 23648458, 24925057, 27125587, 28444509, 28723863, 30116263		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	29564561, 31729028		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	19626481, 29564561		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	24533081		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	16895750, 28224635, 30140893, 30581434, 31344662		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	19201475		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	17968686		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	19626481		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30411528		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	31012595		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	19201475		★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	9191888		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29274781		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	30777133		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	21739618	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29016728		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28379478, 29670135		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	38530658	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10655991, 16968399, 23320107, 36029141, 7760718	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34903714	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29016728		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	19330707, 28957562		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	19330707, 20662065	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	29554146, 31422415		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	11527804, 12047754, 15964842, 17400754, 1974555, 2332496, 26342464, 2649513, 33257351, 36982215, 9182815	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12646630, 17400754		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17400754, 19635858, 1974555, 20709399, 21862588, 22402340, 22554526, 23975864, 24462112, 24602337, 26942676, 27943421, 28417151, 28663326, 29463848, 29465352, 30178506, 30288100, 30915082, 7541994, 9236864, 9486405, 9833039		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	23841690, 24602337	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	19194477, 28620393		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	28592884		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	28592884	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30719818		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26398169, 29306221, 29511085, 30288100, 30502437, 31622717, 8823369		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24567374, 26070530, 26398169, 29511085, 32102992, 37460470, 8823369	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	25362659		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	37090702	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32225170, 34220328, 35226825, 40598282	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32678213	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28614199		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26055142, 34921137	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33006365	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30719818		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10861453		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36694250	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	28118945	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	20662065	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19330707	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28843719		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30584028, 31127862		★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	7760718	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31127862		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30471633, 31731111		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas Cardiomyopathy	BEFREE	20709399		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	19194477, 28620393		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27026680, 31789933		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22490521, 26510091, 27125587, 27376251, 27705923, 29516270, 30738693		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27830973, 32225170, 36307841, 36376892, 37478825, 37838280	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	BEFREE	3265961		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	11257091, 20499382, 24354957, 25994441, 28204891, 28501799, 28626076, 28843719, 28880700, 30808622, 9125247, 9182815, 9667364		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	16200587	Associate	★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	1444503		★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	BEFREE	29175096		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	11527804, 21739618, 38530658	Associate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	27193468, 27706114, 29989658, 30616054, 31168306, 31718649, 9104738		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29016728		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29016728		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29016728		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11160347		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	30767866		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29805602		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	20227114	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	19635858, 27943421		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	8094596	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	19194477, 19635858		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	12077598, 16895750, 28224635, 29933322, 30140893, 30581434, 31344662		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	32905890, 36029141, 37382274	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	31018961		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29362719, 31096460		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30103041, 30261673		★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	28664835, 9182815	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	26670709	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	16630135	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	16200587	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	30739198	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	29147879, 30836050		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	27803420	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40598282	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37367937	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40598282	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	26206675, 30178506		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	32849514	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10205590		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	36456101	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	15630133, 8195531		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19330707, 28118945, 28626076	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	27425425		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	24294139	Stimulate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15934438		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	31422415	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	9833039	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	BEFREE	30178506, 30561748		★☆☆☆☆ Found in Text Mining only
Hypergammaglobulinemia	Hypergammaglobulinemia	Pubtator	34335613	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	40489831	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30471633		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	27936488, 28986052, 9218821		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30685360		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	3258497		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29559014		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	31494268		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29113905		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	27943421		★☆☆☆☆ Found in Text Mining only
Intestinal Perforation	Intestinal Perforation	BEFREE	26670709		★☆☆☆☆ Found in Text Mining only
Intestinal Perforation	Intestinal perforation	Pubtator	26670709	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	30103041		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30471633		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	7760718	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17400754		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26055142		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	7702406	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	21739618	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	33533258	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30836050		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	33257351, 8094596	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	32049748, 32905890, 33257351, 36018314, 36029141, 37382274, 38293996, 38530658, 40489831, 7760718	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28379478, 28417151, 29670135, 29989658, 30616054, 30685360, 31018961, 31344662, 31375890, 31718649		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	29532744, 30777133, 30915082		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	11115162, 1444503, 14698275, 19635858, 21862588, 23832290, 25098814, 2584740, 29265023, 30915082, 3262691, 7693382		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	15692985, 19194477, 1985112, 2132545, 24021438, 2584740, 8345220, 8423383	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	22763789	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10655991, 12047754, 12646630, 16968399, 1967259, 1974555, 1985112, 19968664, 2132545, 21862588, 22363785, 2332496, 24294139, 25098814, 2584740, 26192630, 2649513, 32576231, 3262691, 36040804, 38530658, 40316394, 40489831, 6207206, 7492240, 7531629, 7693382, 7760718, 8094596, 8423383, 8823369, 9833039	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15022331, 16670339, 22763789, 30777133	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	BEFREE	19194477, 28620393		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	1444503, 14698275, 19635858, 21862588, 23832290, 25098814, 2584740, 29265023, 30915082, 7693382, 8628749		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11560955, 12047754, 12410795, 12410797, 12729048, 1444503, 14698275, 16006098, 16670339, 19635858, 1967259, 1974555, 19968664, 20692223, 21078628, 21167895, 21862588, 23832290, 23975864, 24449583, 2462349, 24899637, 25098814, 25369137, 2584740, 2706027, 27888685, 28565882, 28851621, 29265023, 29274781, 29385873, 29463848, 29922285, 30178506, 30581434, 30777133, 30915082, 31674268, 3230562, 3467658, 6334744, 6392551, 6980631, 7531629, 7582692, 7693382, 7713506, 7813108, 7964985, 8137537, 9125110, 9833039, 9843982		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	12646630, 16670339		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	24741600, 30403595		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	1444503, 14698275, 19635858, 21862588, 23832290, 25098814, 2584740, 29265023, 30915082, 7693382		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25880119, 34335613	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30882006		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29306221, 29511085, 30288100, 30502437, 31622717, 8823369		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26055142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10861453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27830973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30719818		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21836485, 25314065, 27658891, 28663326, 29274781, 30288100, 31622717, 31655327, 31707642, 31729028		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27026680, 30265426, 30398409, 31789933		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29805602		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	26206675		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	37180137	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	30477398	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	25110432	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37083684	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32736138	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	30410495		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	17763410, 25301447, 31096460, 36018314, 37769433, 38293996, 9218821	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	2462349, 30915082, 31018961, 31092523, 31718649		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	27936488	Inhibit	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	31494268	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	31096460, 37199165, 39625817	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	31096460		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30573520, 30886235		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32005234, 36797289	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	36797289	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	17763410	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	26670709		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10861453, 23648458, 24925057, 26391562, 28723863, 29274781, 30209217, 30288100, 30510949, 30719818, 31622717		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31555278		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30084687, 31492994		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29673441		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29673441	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32023548, 33414451	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29125478, 32083570	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35226825	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27830973		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29274781		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27830973	Associate	★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	29125478	Associate	★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	30824556		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	38157091	Associate	★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	31095438		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28447402		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	27663716		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	28447402, 29554146, 30581434		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27943421, 29859926		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	29859926	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	20227114	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	24294139, 40316394	Stimulate	★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	34664863, 36581379, 40489831	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	8846545		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16968399, 17968686, 23044167, 23320107, 28663326, 3865340, 8846545		★☆☆☆☆ Found in Text Mining only
Robinow Syndrome	Robinow syndrome	Pubtator	40489831	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	32175889, 40489831	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	36581379	Stimulate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	19330707	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	10205590, 10555043, 10616008, 10655991, 11263778, 11959762, 12047754, 12646630, 12905478, 15964842, 16968399, 1985112, 21862588, 2332496, 24673429, 25098814, 25845745, 2584740, 26201309, 2649513, 28664835, 31366407, 31428085, 31611218, 31661985, 32573420, 32576236, 32889544, 32939030, 33123604, 33773524, 34664863, 34665703, 34857786, 35144926, 38213044, 40489831, 40650157, 7492240, 7693382, 7760718, 8423383, 8823369	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	11967114, 16670339, 30777133, 34335613, 37638029, 39480501	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	19194477	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	18540991, 19194477, 28620393		★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	30221483		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16630135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34220328, 36982215	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36353796, 37897508	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28749191, 30581434, 30685360, 30913258		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	10205590		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	2579661, 6605702		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38123542	Associate	★☆☆☆☆ Found in Text Mining only