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	9101
Gene name	Ubiquitin specific peptidase 8
Gene symbol	USP8
Synonyms (NCBI Gene)	HumORF8PITA4SPG59UBPY
Chromosome	15
Chromosome location	15q21.2
Summary	This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo s

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs672601306	TCC>-	Pathogenic	Inframe deletion, coding sequence variant
rs672601307	T>C	Pathogenic	Coding sequence variant, missense variant
rs672601308	C>G	Pathogenic	Coding sequence variant, missense variant
rs672601309	T>G	Pathogenic	Coding sequence variant, missense variant
rs672601310	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs672601311	C>G,T	Pathogenic	Coding sequence variant, missense variant

174

Show/Hide all (174)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051165	hsa-miR-16-5p	CLASH	23622248
MIRT047051	hsa-miR-183-5p	CLASH	23622248
MIRT046085	hsa-miR-125b-5p	CLASH	23622248
MIRT044017	hsa-miR-374a-5p	CLASH	23622248
MIRT697725	hsa-miR-212-3p	HITS-CLIP	23313552
MIRT697724	hsa-miR-132-3p	HITS-CLIP	23313552
MIRT697722	hsa-miR-6768-3p	HITS-CLIP	23313552
MIRT697723	hsa-miR-4753-5p	HITS-CLIP	23313552
MIRT697721	hsa-miR-8066	HITS-CLIP	23313552
MIRT697720	hsa-miR-15a-3p	HITS-CLIP	23313552
MIRT510564	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT510563	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT510561	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT510562	hsa-miR-4643	PAR-CLIP	20371350
MIRT510560	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT510559	hsa-miR-466	PAR-CLIP	20371350
MIRT510564	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT510563	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT510561	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT510562	hsa-miR-4643	PAR-CLIP	23446348
MIRT510560	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT510559	hsa-miR-466	PAR-CLIP	23446348
MIRT439320	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT439320	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT697725	hsa-miR-212-3p	HITS-CLIP	23313552
MIRT697724	hsa-miR-132-3p	HITS-CLIP	23313552
MIRT697722	hsa-miR-6768-3p	HITS-CLIP	23313552
MIRT697723	hsa-miR-4753-5p	HITS-CLIP	23313552
MIRT697721	hsa-miR-8066	HITS-CLIP	23313552
MIRT697720	hsa-miR-15a-3p	HITS-CLIP	23313552
MIRT510564	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT510563	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT510561	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT510562	hsa-miR-4643	PAR-CLIP	20371350
MIRT510560	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT510559	hsa-miR-466	PAR-CLIP	20371350
MIRT510564	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT510563	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT510561	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT510562	hsa-miR-4643	PAR-CLIP	23446348
MIRT510560	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT510559	hsa-miR-466	PAR-CLIP	23446348
MIRT1480654	hsa-miR-1244	CLIP-seq
MIRT1480655	hsa-miR-1245b-3p	CLIP-seq
MIRT1480656	hsa-miR-146b-3p	CLIP-seq
MIRT1480657	hsa-miR-155	CLIP-seq
MIRT1480658	hsa-miR-19a	CLIP-seq
MIRT1480659	hsa-miR-19b	CLIP-seq
MIRT1480660	hsa-miR-302f	CLIP-seq
MIRT1480661	hsa-miR-3157-3p	CLIP-seq
MIRT1480662	hsa-miR-3168	CLIP-seq
MIRT1480663	hsa-miR-3173-5p	CLIP-seq
MIRT1480664	hsa-miR-339-5p	CLIP-seq
MIRT1480665	hsa-miR-3607-3p	CLIP-seq
MIRT1480666	hsa-miR-3646	CLIP-seq
MIRT1480667	hsa-miR-3682-3p	CLIP-seq
MIRT1480668	hsa-miR-3684	CLIP-seq
MIRT1480669	hsa-miR-3921	CLIP-seq
MIRT1480670	hsa-miR-3929	CLIP-seq
MIRT1480671	hsa-miR-4419b	CLIP-seq
MIRT1480672	hsa-miR-4446-5p	CLIP-seq
MIRT1480673	hsa-miR-4468	CLIP-seq
MIRT1480674	hsa-miR-4478	CLIP-seq
MIRT1480675	hsa-miR-4653-5p	CLIP-seq
MIRT1480676	hsa-miR-4682	CLIP-seq
MIRT1480677	hsa-miR-4686	CLIP-seq
MIRT1480678	hsa-miR-4755-5p	CLIP-seq
MIRT1480679	hsa-miR-4766-5p	CLIP-seq
MIRT1480680	hsa-miR-4771	CLIP-seq
MIRT1480681	hsa-miR-4777-5p	CLIP-seq
MIRT1480682	hsa-miR-499-3p	CLIP-seq
MIRT1480683	hsa-miR-499a-3p	CLIP-seq
MIRT1480684	hsa-miR-518d-5p	CLIP-seq
MIRT1480685	hsa-miR-519b-5p	CLIP-seq
MIRT1480686	hsa-miR-519c-5p	CLIP-seq
MIRT1480687	hsa-miR-520c-5p	CLIP-seq
MIRT1480688	hsa-miR-526a	CLIP-seq
MIRT1480689	hsa-miR-562	CLIP-seq
MIRT1480690	hsa-miR-616	CLIP-seq
MIRT1480691	hsa-miR-874	CLIP-seq
MIRT1480692	hsa-miR-944	CLIP-seq
MIRT1480693	hsa-miR-1263	CLIP-seq
MIRT1480694	hsa-miR-1291	CLIP-seq
MIRT1480695	hsa-miR-130a	CLIP-seq
MIRT1480696	hsa-miR-130b	CLIP-seq
MIRT1480656	hsa-miR-146b-3p	CLIP-seq
MIRT1480658	hsa-miR-19a	CLIP-seq
MIRT1480659	hsa-miR-19b	CLIP-seq
MIRT1480697	hsa-miR-203	CLIP-seq
MIRT1480698	hsa-miR-2052	CLIP-seq
MIRT1480699	hsa-miR-301a	CLIP-seq
MIRT1480700	hsa-miR-301b	CLIP-seq
MIRT1480660	hsa-miR-302f	CLIP-seq
MIRT1480701	hsa-miR-3074-3p	CLIP-seq
MIRT1480661	hsa-miR-3157-3p	CLIP-seq
MIRT1480663	hsa-miR-3173-5p	CLIP-seq
MIRT1480702	hsa-miR-328	CLIP-seq
MIRT1480703	hsa-miR-338-5p	CLIP-seq
MIRT1480664	hsa-miR-339-5p	CLIP-seq
MIRT1480704	hsa-miR-3591-5p	CLIP-seq
MIRT1480705	hsa-miR-3666	CLIP-seq
MIRT1480706	hsa-miR-376a	CLIP-seq
MIRT1480707	hsa-miR-376b	CLIP-seq
MIRT1480708	hsa-miR-382	CLIP-seq
MIRT1480709	hsa-miR-4295	CLIP-seq
MIRT1480710	hsa-miR-4422	CLIP-seq
MIRT1480711	hsa-miR-4426	CLIP-seq
MIRT1480672	hsa-miR-4446-5p	CLIP-seq
MIRT1480712	hsa-miR-4473	CLIP-seq
MIRT1480713	hsa-miR-4475	CLIP-seq
MIRT1480714	hsa-miR-454	CLIP-seq
MIRT1480715	hsa-miR-4647	CLIP-seq
MIRT1480716	hsa-miR-4662b	CLIP-seq
MIRT1480717	hsa-miR-4671-3p	CLIP-seq
MIRT1480718	hsa-miR-4694-3p	CLIP-seq
MIRT1480719	hsa-miR-4719	CLIP-seq
MIRT1480678	hsa-miR-4755-5p	CLIP-seq
MIRT1480681	hsa-miR-4777-5p	CLIP-seq
MIRT1480720	hsa-miR-496	CLIP-seq
MIRT1480682	hsa-miR-499-3p	CLIP-seq
MIRT1480683	hsa-miR-499a-3p	CLIP-seq
MIRT1480684	hsa-miR-518d-5p	CLIP-seq
MIRT1480685	hsa-miR-519b-5p	CLIP-seq
MIRT1480686	hsa-miR-519c-5p	CLIP-seq
MIRT1480687	hsa-miR-520c-5p	CLIP-seq
MIRT1480721	hsa-miR-522	CLIP-seq
MIRT1480688	hsa-miR-526a	CLIP-seq
MIRT1480722	hsa-miR-548u	CLIP-seq
MIRT1480723	hsa-miR-561	CLIP-seq
MIRT1480724	hsa-miR-587	CLIP-seq
MIRT1480690	hsa-miR-616	CLIP-seq
MIRT1480725	hsa-miR-664	CLIP-seq
MIRT1480691	hsa-miR-874	CLIP-seq
MIRT1480655	hsa-miR-1245b-3p	CLIP-seq
MIRT2144613	hsa-miR-1245b-5p	CLIP-seq
MIRT2144614	hsa-miR-132	CLIP-seq
MIRT2144615	hsa-miR-1323	CLIP-seq
MIRT2144616	hsa-miR-141	CLIP-seq
MIRT1480657	hsa-miR-155	CLIP-seq
MIRT2144617	hsa-miR-200a	CLIP-seq
MIRT2144618	hsa-miR-212	CLIP-seq
MIRT2144619	hsa-miR-27a	CLIP-seq
MIRT2144620	hsa-miR-27b	CLIP-seq
MIRT1480701	hsa-miR-3074-3p	CLIP-seq
MIRT2144621	hsa-miR-3142	CLIP-seq
MIRT2144622	hsa-miR-3148	CLIP-seq
MIRT2144623	hsa-miR-3156-3p	CLIP-seq
MIRT2144624	hsa-miR-345	CLIP-seq
MIRT1480667	hsa-miR-3682-3p	CLIP-seq
MIRT2144625	hsa-miR-374a	CLIP-seq
MIRT2144626	hsa-miR-374b	CLIP-seq
MIRT1480708	hsa-miR-382	CLIP-seq
MIRT2144627	hsa-miR-4301	CLIP-seq
MIRT1480711	hsa-miR-4426	CLIP-seq
MIRT2144628	hsa-miR-4435	CLIP-seq
MIRT2144629	hsa-miR-450b-5p	CLIP-seq
MIRT1480715	hsa-miR-4647	CLIP-seq
MIRT2144630	hsa-miR-4650-5p	CLIP-seq
MIRT1480716	hsa-miR-4662b	CLIP-seq
MIRT1480718	hsa-miR-4694-3p	CLIP-seq
MIRT2144631	hsa-miR-4703-3p	CLIP-seq
MIRT2144632	hsa-miR-4799-5p	CLIP-seq
MIRT1480682	hsa-miR-499-3p	CLIP-seq
MIRT1480683	hsa-miR-499a-3p	CLIP-seq
MIRT2144633	hsa-miR-513a-5p	CLIP-seq
MIRT1480721	hsa-miR-522	CLIP-seq
MIRT2144634	hsa-miR-532-3p	CLIP-seq
MIRT2144635	hsa-miR-548o	CLIP-seq
MIRT1480689	hsa-miR-562	CLIP-seq
MIRT2144636	hsa-miR-676	CLIP-seq
MIRT1480692	hsa-miR-944	CLIP-seq
MIRT1480708	hsa-miR-382	CLIP-seq
MIRT1480718	hsa-miR-4694-3p	CLIP-seq
MIRT1480721	hsa-miR-522	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	18388320
GO:0002080	Component	Acrosomal membrane	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9827704
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	16520378, 18388320, 18728397, 27444016
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS	9628861
GO:0005515	Function	Protein binding	IPI	15161933, 15778465, 17711858, 18329369, 19302785, 19427866, 24378640, 28514442, 33961781, 35271311, 36931259
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	18388320
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	16520378
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16520378
GO:0005829	Component	Cytosol	IDA	27444016
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007032	Process	Endosome organization	IBA
GO:0007032	Process	Endosome organization	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	18388320
GO:0016579	Process	Protein deubiquitination	IMP	27302062
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	18388320
GO:0030496	Component	Midbody	IEA
GO:0031647	Process	Regulation of protein stability	IMP	27302062
GO:0032880	Process	Regulation of protein localization	IMP	27302062
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0061578	Function	K63-linked deubiquitinase activity	IDA	16520378
GO:0070536	Process	Protein K63-linked deubiquitination	IDA	16520378
GO:0071108	Process	Protein K48-linked deubiquitination	IDA	16520378
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	20495530
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099576	Process	Regulation of protein catabolic process at postsynapse, modulating synaptic transmission	IEA
GO:1905166	Process	Negative regulation of lysosomal protein catabolic process	IMP	27444016
GO:1905908	Process	Positive regulation of amyloid fibril formation	IMP	27444016
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IEA
GO:1990380	Function	K48-linked deubiquitinase activity	IDA	16520378

MIM	HGNC	e!Ensembl
603158	12631	ENSG00000138592

P40818

Protein name

Ubiquitin carboxyl-terminal hydrolase 8 (EC 3.4.19.12) (Deubiquitinating enzyme 8) (Ubiquitin isopeptidase Y) (hUBPy) (Ubiquitin thioesterase 8) (Ubiquitin-specific-processing protease 8)

Protein function

Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activ

PDB

1WHB , 2A9U , 2GFO , 2GWF , 3N3K , 6F09 , 8ADM , 8XPN , 8Y9A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08969	USP8_dimer	6 → 116	USP8 dimerisation domain	Domain
PF00581	Rhodanese	184 → 307	Rhodanese-like domain	Domain
PF00443	UCH	777 → 1106	Ubiquitin carboxyl-terminal hydrolase	Family

Sequence

MPAVASVPKELYLSSSLKDLNKKTEVKPEKISTKSYVHSALKIFKTAEECRLDRDEERAY
VLYMKYVTVYNLIKKRPDFKQQQDYFHSILGPGNIKKAVEEAERLSESLKLRYEEAEVRK
KLEEKDRQEEAQRLQQKRQETGREDGGTLAKGSLENVLDSKDKTQKSNGEKNEKCETKEK
GAITAKELYTMMTDKNISLIIMDARRMQDYQDSCILHSLSVPEEAISPGVTASWIEAHLP
DDSKDTWKKRGNVEYVVLLDWFSSAKDLQIGTTLRSLKDALFKWESKTVLRNEPLVLEGG
YENWLLCYPQYTTNAKVTPPPRRQNEEVSISLDFTYPSLEESIPSKPAAQTPPASIEVDE
NIELISGQNERMGPLNISTPVEPVAASKSDVSPIIQPVPSIKNVPQIDRTKKPAVKLPEE
HRIKSESTNHEQQSPQSGKVIPDRSTKPVVFSPTLMLTDEEKARIHAETALLMEKNKQEK
ELRERQQEEQKEKLRKEEQEQKAKKKQEAEENEITEKQQKAKEEMEKKESEQAKKEDKET
SAKRGKEITGVKRQSKSEHETSDAKKSVEDRGKRCPTPEIQKKSTGDVPHTSVTGDSGSG
KPFKIKGQPESGILRTGTFREDTDDTERNKAQREPLTRARSEEMGRIVPGLPSGWAKFLD
PITGTFRYYHSPTNTVHMYPPEMAPSSAPPSTPPTHKAKPQIPAERDREPSKLKRSYSSP
DITQAIQEEEKRKPTVTPTVNRENKPTCYPKAEISRLSASQIRNLNPVFGGSGPALTGLR
NLGNTCYMNSILQCLCNAPHLADYFNRNCYQDDINRSNLLGHKGEVAEEFGIIMKALWTG
QYRYISPKDFKITIGKINDQFAGYSQQDSQELLLFLMDGLHEDLNKADNRKRYKEENNDH
LDDFKAAEHAWQKHKQLNESIIVALFQGQFKSTVQCLTCHKKSRTFEAFMYLSLPLASTS
KCTLQDCLRLFSKEEKLTDNNRFYCSHCRARRDSLKKIEIWKLPPVLLVHLKRFSYDGRW
KQKLQTSVDFPLENLDLSQYVIGPKNNLKKYNLFSVSNHYGGLDGGHYTAYCKNAARQRW
FKFDDHEVSDISVSSVKSSAAYILFYTSLGPRVTDVAT

Sequence length

1118

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Endocytosis Cushing syndrome		Downregulation of ERBB2:ERBB3 signaling Regulation of FZD by ubiquitination Ub-specific processing proteases Negative regulation of MET activity

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
Pituitary dependent hypercortisolism	Pathogenic	rs672601307, rs672601308, rs672601306, rs672601311	RCV000149417 RCV000149418 RCV000149416 RCV000149420	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive spastic paraplegia type 59	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING DISEASE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY-DEPENDENT CUSHINGS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USP8-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (97)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal fear/anxiety-related behavior	Behavioral abnormality	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	CTD_human_DG	25485838		★★★★★ ★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	25942478, 26162929, 26208471, 26412158, 26578638, 26701869, 28505279, 29396598, 30093687, 30130808, 30315484, 30844069, 30880293, 31581124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28544031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28544031, 29880877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25675982, 25942478, 27255538, 30844069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	26701869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40382655	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	28544031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	30946743		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 59	Spastic Paraplegia	ORPHANET_DG	24482476		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal recessive spastic paraplegia type 59	Spastic Paraplegia	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Azoospermia	Azoospermia	Pubtator	28975488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30132974, 31527799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29626091, 31527799, 35361778, 35811497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37311739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23748694, 26260621, 30010158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37332045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30010158, 31705877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	35205232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	30084690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27321185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29472535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26214742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	35029852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	39684405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing disease	Pituitary Dependent Hypercortisolism	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing`s Syndrome	ORPHANET_DG	25485838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	35029852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	29472535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20484045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20484045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20484045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	29396598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	29957855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35205232	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	35029852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inappropriate ACTH Secretion Syndrome	Inappropriate ACTH Secretion Syndrome	CTD_human_DG	25485838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	28975488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	31845722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26260621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30010158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30132974, 31527799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23748694, 26260621, 30010158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26162929, 27321185, 30010158		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27321185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22147262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23748694, 25930709, 27321185, 28505279, 28982703, 29880877, 30010158, 30084690, 30093687, 31162547, 31487906, 31666445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23748694, 29880877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	28979191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37639742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37981592	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	31487906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	25675982, 25930709, 32652004, 34489873, 35668434, 40544420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary-dependent Cushing`s disease	Pituitary Dependent Hypercortisolism	CTD_human_DG	25485838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary-dependent Cushing`s disease	Pituitary Dependent Hypercortisolism	ORPHANET_DG	25485838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary-dependent Cushing`s disease	Pituitary Dependent Hypercortisolism	UNIPROT_DG	28505279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary-dependent Cushing`s disease	Pituitary Dependent Hypercortisolism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic mentation	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31705877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	37287971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

USP8 (ubiquitin specific peptidase 8)