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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11274
Gene name	Ubiquitin specific peptidase 18
Gene symbol	USP18
Synonyms (NCBI Gene)	ISG43PTORCH2UBP43
Chromosome	22
Chromosome location	22q11.21
Summary	The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein eff

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1085307118	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602534094	G>A	Pathogenic	Splice donor variant

202

Show/Hide all (202)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003365	hsa-miR-221-3p	Reporter assay;Microarray	20018759
MIRT024799	hsa-miR-215-5p	Microarray	19074876
MIRT026176	hsa-miR-192-5p	Microarray	19074876
MIRT028905	hsa-miR-26b-5p	Microarray	19088304
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477856	hsa-miR-1292	CLIP-seq
MIRT1477857	hsa-miR-138	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT1477859	hsa-miR-188-5p	CLIP-seq
MIRT1477860	hsa-miR-24	CLIP-seq
MIRT1477861	hsa-miR-3136-5p	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT1477863	hsa-miR-3161	CLIP-seq
MIRT1477864	hsa-miR-3184	CLIP-seq
MIRT1477865	hsa-miR-328	CLIP-seq
MIRT1477866	hsa-miR-340	CLIP-seq
MIRT1477867	hsa-miR-345	CLIP-seq
MIRT1477868	hsa-miR-361-3p	CLIP-seq
MIRT1477869	hsa-miR-383	CLIP-seq
MIRT1477870	hsa-miR-409-5p	CLIP-seq
MIRT1477871	hsa-miR-423-5p	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT1477873	hsa-miR-4256	CLIP-seq
MIRT1477874	hsa-miR-4274	CLIP-seq
MIRT1477875	hsa-miR-4279	CLIP-seq
MIRT1477876	hsa-miR-4299	CLIP-seq
MIRT1477877	hsa-miR-4422	CLIP-seq
MIRT1477878	hsa-miR-4436a	CLIP-seq
MIRT1477879	hsa-miR-4439	CLIP-seq
MIRT1477880	hsa-miR-4471	CLIP-seq
MIRT1477881	hsa-miR-4513	CLIP-seq
MIRT1477882	hsa-miR-4519	CLIP-seq
MIRT1477883	hsa-miR-4527	CLIP-seq
MIRT1477884	hsa-miR-4646-5p	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT1477887	hsa-miR-4717-3p	CLIP-seq
MIRT1477888	hsa-miR-4743	CLIP-seq
MIRT1477889	hsa-miR-4772-5p	CLIP-seq
MIRT1477890	hsa-miR-492	CLIP-seq
MIRT1477891	hsa-miR-520d-5p	CLIP-seq
MIRT1477892	hsa-miR-524-5p	CLIP-seq
MIRT1477893	hsa-miR-544b	CLIP-seq
MIRT1477894	hsa-miR-570	CLIP-seq
MIRT1477895	hsa-miR-889	CLIP-seq
MIRT1477896	hsa-miR-935	CLIP-seq
MIRT1477897	hsa-miR-944	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2143954	hsa-miR-200b	CLIP-seq
MIRT2143955	hsa-miR-200c	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2143958	hsa-miR-369-3p	CLIP-seq
MIRT2143959	hsa-miR-374a	CLIP-seq
MIRT2143960	hsa-miR-374b	CLIP-seq
MIRT2143961	hsa-miR-429	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT2143964	hsa-miR-568	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2364180	hsa-miR-191	CLIP-seq
MIRT2143954	hsa-miR-200b	CLIP-seq
MIRT2143955	hsa-miR-200c	CLIP-seq
MIRT2364181	hsa-miR-216b	CLIP-seq
MIRT2364182	hsa-miR-2277-3p	CLIP-seq
MIRT2364183	hsa-miR-300	CLIP-seq
MIRT2364184	hsa-miR-3148	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2364185	hsa-miR-3157-5p	CLIP-seq
MIRT2364186	hsa-miR-3662	CLIP-seq
MIRT2364187	hsa-miR-3663-5p	CLIP-seq
MIRT2364188	hsa-miR-3688-3p	CLIP-seq
MIRT2143958	hsa-miR-369-3p	CLIP-seq
MIRT2143959	hsa-miR-374a	CLIP-seq
MIRT2143960	hsa-miR-374b	CLIP-seq
MIRT2364189	hsa-miR-381	CLIP-seq
MIRT2364190	hsa-miR-409-3p	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT2143961	hsa-miR-429	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT2364191	hsa-miR-4640-3p	CLIP-seq
MIRT2364192	hsa-miR-4666-3p	CLIP-seq
MIRT2364193	hsa-miR-4676-5p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT2364194	hsa-miR-4694-3p	CLIP-seq
MIRT2364195	hsa-miR-4722-3p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT1477891	hsa-miR-520d-5p	CLIP-seq
MIRT1477892	hsa-miR-524-5p	CLIP-seq
MIRT2143964	hsa-miR-568	CLIP-seq
MIRT2364196	hsa-miR-575	CLIP-seq
MIRT2364197	hsa-miR-665	CLIP-seq
MIRT2364198	hsa-miR-873	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477856	hsa-miR-1292	CLIP-seq
MIRT1477857	hsa-miR-138	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2143954	hsa-miR-200b	CLIP-seq
MIRT2143955	hsa-miR-200c	CLIP-seq
MIRT2364183	hsa-miR-300	CLIP-seq
MIRT2657908	hsa-miR-3129-3p	CLIP-seq
MIRT1477861	hsa-miR-3136-5p	CLIP-seq
MIRT2657909	hsa-miR-3145-3p	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2364185	hsa-miR-3157-5p	CLIP-seq
MIRT1477865	hsa-miR-328	CLIP-seq
MIRT1477867	hsa-miR-345	CLIP-seq
MIRT1477868	hsa-miR-361-3p	CLIP-seq
MIRT2657910	hsa-miR-3663-3p	CLIP-seq
MIRT2364187	hsa-miR-3663-5p	CLIP-seq
MIRT2143958	hsa-miR-369-3p	CLIP-seq
MIRT2143959	hsa-miR-374a	CLIP-seq
MIRT2143960	hsa-miR-374b	CLIP-seq
MIRT2364189	hsa-miR-381	CLIP-seq
MIRT1477869	hsa-miR-383	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT1477873	hsa-miR-4256	CLIP-seq
MIRT2657911	hsa-miR-4286	CLIP-seq
MIRT2143961	hsa-miR-429	CLIP-seq
MIRT1477876	hsa-miR-4299	CLIP-seq
MIRT2657912	hsa-miR-4301	CLIP-seq
MIRT2657913	hsa-miR-431	CLIP-seq
MIRT1477877	hsa-miR-4422	CLIP-seq
MIRT1477878	hsa-miR-4436a	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT1477879	hsa-miR-4439	CLIP-seq
MIRT1477880	hsa-miR-4471	CLIP-seq
MIRT2657914	hsa-miR-4509	CLIP-seq
MIRT1477881	hsa-miR-4513	CLIP-seq
MIRT1477883	hsa-miR-4527	CLIP-seq
MIRT1477884	hsa-miR-4646-5p	CLIP-seq
MIRT2364192	hsa-miR-4666-3p	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT2364193	hsa-miR-4676-5p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT1477887	hsa-miR-4717-3p	CLIP-seq
MIRT1477888	hsa-miR-4743	CLIP-seq
MIRT1477889	hsa-miR-4772-5p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT1477890	hsa-miR-492	CLIP-seq
MIRT2657915	hsa-miR-503	CLIP-seq
MIRT2657916	hsa-miR-532-3p	CLIP-seq
MIRT2143964	hsa-miR-568	CLIP-seq
MIRT2364196	hsa-miR-575	CLIP-seq
MIRT1477854	hsa-miR-1260	CLIP-seq
MIRT1477855	hsa-miR-1260b	CLIP-seq
MIRT1477856	hsa-miR-1292	CLIP-seq
MIRT1477857	hsa-miR-138	CLIP-seq
MIRT1477858	hsa-miR-188-3p	CLIP-seq
MIRT2364183	hsa-miR-300	CLIP-seq
MIRT2657908	hsa-miR-3129-3p	CLIP-seq
MIRT1477861	hsa-miR-3136-5p	CLIP-seq
MIRT2657909	hsa-miR-3145-3p	CLIP-seq
MIRT2143956	hsa-miR-3155	CLIP-seq
MIRT2143957	hsa-miR-3155b	CLIP-seq
MIRT1477862	hsa-miR-3156-3p	CLIP-seq
MIRT2364185	hsa-miR-3157-5p	CLIP-seq
MIRT1477865	hsa-miR-328	CLIP-seq
MIRT1477867	hsa-miR-345	CLIP-seq
MIRT1477868	hsa-miR-361-3p	CLIP-seq
MIRT2657910	hsa-miR-3663-3p	CLIP-seq
MIRT2364187	hsa-miR-3663-5p	CLIP-seq
MIRT2364189	hsa-miR-381	CLIP-seq
MIRT1477869	hsa-miR-383	CLIP-seq
MIRT1477872	hsa-miR-4252	CLIP-seq
MIRT1477873	hsa-miR-4256	CLIP-seq
MIRT2657911	hsa-miR-4286	CLIP-seq
MIRT1477876	hsa-miR-4299	CLIP-seq
MIRT2657912	hsa-miR-4301	CLIP-seq
MIRT2657913	hsa-miR-431	CLIP-seq
MIRT1477877	hsa-miR-4422	CLIP-seq
MIRT1477878	hsa-miR-4436a	CLIP-seq
MIRT2143962	hsa-miR-4438	CLIP-seq
MIRT1477879	hsa-miR-4439	CLIP-seq
MIRT1477880	hsa-miR-4471	CLIP-seq
MIRT2657914	hsa-miR-4509	CLIP-seq
MIRT1477881	hsa-miR-4513	CLIP-seq
MIRT1477883	hsa-miR-4527	CLIP-seq
MIRT1477884	hsa-miR-4646-5p	CLIP-seq
MIRT2364192	hsa-miR-4666-3p	CLIP-seq
MIRT1477885	hsa-miR-4670-3p	CLIP-seq
MIRT2364193	hsa-miR-4676-5p	CLIP-seq
MIRT1477886	hsa-miR-4691-3p	CLIP-seq
MIRT1477887	hsa-miR-4717-3p	CLIP-seq
MIRT1477888	hsa-miR-4743	CLIP-seq
MIRT1477889	hsa-miR-4772-5p	CLIP-seq
MIRT2143963	hsa-miR-484	CLIP-seq
MIRT2657915	hsa-miR-503	CLIP-seq
MIRT2657916	hsa-miR-532-3p	CLIP-seq
MIRT2364196	hsa-miR-575	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS	10777664
GO:0005515	Function	Protein binding	IPI	16189514, 16710296, 25307056, 25416956, 28165510, 31515488, 31836668, 32092142, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10777664
GO:0005737	Component	Cytoplasm	IC	27801882
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019785	Function	ISG15-specific peptidase activity	EXP	11788588
GO:0019785	Function	ISG15-specific peptidase activity	IEA
GO:0031647	Process	Regulation of protein stability	IBA
GO:0035634	Process	Response to stilbenoid	IEA
GO:0050727	Process	Regulation of inflammatory response	IMP	27325888
GO:0051707	Process	Response to other organism	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	27801882
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IDA	28165510
GO:0140374	Process	Antiviral innate immune response	IDA	21074459, 27801882
GO:0140374	Process	Antiviral innate immune response	IDA	27801882

MIM	HGNC	e!Ensembl
607057	12616	ENSG00000184979

Q9UMW8

Protein name

Ubl carboxyl-terminal hydrolase 18 (EC 3.4.19.12) (43 kDa ISG15-specific protease) (hUBP43) (ISG15-specific-processing protease) (Ubl thioesterase 18)

Protein function

Interferon-induced ISG15-specific protease that plays a crucial role for maintaining a proper balance of ISG15-conjugated proteins in cells (PubMed:11788588). Regulates protein ISGylation by efficiently cleaving ISG15 conjugates linked via isope

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00443	UCH	55 → 367	Ubiquitin carboxyl-terminal hydrolase	Family

Sequence

MSKAFGLLRQICQSILAESSQSPADLEEKKEEDSNMKREQPRERPRAWDYPHGLVGLHNI
GQTCCLNSLIQVFVMNVDFTRILKRITVPRGADEQRRSVPFQMLLLLEKMQDSRQKAVRP
LELAYCLQKCNVPLFVQHDAAQLYLKLWNLIKDQITDVHLVERLQALYTIRVKDSLICVD
CAMESSRNSSMLTLPLSLFDVDSKPLKTLEDALHCFFQPRELSSKSKCFCENCGKKTRGK
QVLKLTHLPQTLTIHLMRFSIRNSQTRKICHSLYFPQSLDFSQILPMKRESCDAEEQSGG
QYELFAVIAHVGMADSGHYCVYIRNAVDGKWFCFNDSNICLVSWEDIQCTYGNPNYHWQE
TAYLLVYMKMEC

Sequence length

372

Interactions

View interactions

	Reactome
			ISG15 antiviral mechanism Ub-specific processing proteases Regulation of IFNA signaling

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pseudo-TORCH syndrome 2	Likely pathogenic; Pathogenic	rs2517176522, rs1085307118, rs1602534094	RCV003236258 RCV000477724 RCV001000098	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIOMYOSARCOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDO-TORCH SYNDROME TYPE 2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USP18-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (68)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20935222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28242811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	20186858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	27325888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	28519900		★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	BEFREE	21572057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	16734683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	20186858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24204252, 30463877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	30463877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	27325888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29749454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31455647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32132870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22752428, 27980214, 28242811, 29343520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36582601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31513843		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	27325888, 28519900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37756534, 39334957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28369997, 31074081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	22677194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31747454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32699209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	20186858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	20186858, 27605457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23152055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	24204252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28718215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31747454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24955730	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	28630501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	26555296		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leiomyosarcoma	Leiomyosarcoma	CTD_human_DG	26555296		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyosarcoma, Epithelioid	Leiomyosarcoma	CTD_human_DG	26555296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma, Myxoid	Leiomyosarcoma	CTD_human_DG	26555296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28709980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	24955730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27980214		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23623029, 35967341, 36405750, 37506491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29749454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22752428, 27980214, 28242811, 29343520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27980214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21592959, 29343520, 29749454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21886806	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23700969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26555296, 28709980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23291318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35696596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	35022662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudo-TORCH syndrome	Pseudo-TORCH Syndrome	BEFREE	27325888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudo-TORCH syndrome	Pseudo-TORCH Syndrome	GENOMICS_ENGLAND_DG	27325888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudo-TORCH syndrome	Pseudo-TORCH Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PSEUDO-TORCH SYNDROME 2	Pseudo-TORCH Syndrome	GENOMICS_ENGLAND_DG	12833411, 27325888		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PSEUDO-TORCH SYNDROME 2	Pseudo-TORCH Syndrome	ORPHANET_DG	27325888, 27821552		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	22677194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28718215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	35967341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37705121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
USP18 deficiency	Pseudo-TORCH Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	22677194		★★★★★ ★☆☆☆☆ Found in Text Mining only

USP18 (ubiquitin specific peptidase 18)