USP7 (ubiquitin specific peptidase 7)

Gene

• Entrez ID: 7874
• Gene name: Ubiquitin specific peptidase 7
• Gene symbol: USP7
• Synonyms (NCBI Gene): C16DELp13.2, DEL16P13.2, HAFOUS, HAUSP, TEF1
• Chromosome: 16
• Chromosome location: 16p13.2
• Summary: The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs781247345	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs1555462347	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030771	hsa-miR-21-5p	Microarray	18591254
MIRT031560	hsa-miR-16-5p	Proteomics	18668040
MIRT050139	hsa-miR-26a-5p	CLASH	23622248
MIRT040289	hsa-miR-615-3p	CLASH	23622248
MIRT036837	hsa-miR-877-3p	CLASH	23622248
MIRT036643	hsa-miR-935	CLASH	23622248
MIRT1480621	hsa-miR-1206	CLIP-seq
MIRT1480622	hsa-miR-1226	CLIP-seq
MIRT1480623	hsa-miR-1298	CLIP-seq
MIRT1480624	hsa-miR-3160-5p	CLIP-seq
MIRT1480625	hsa-miR-3163	CLIP-seq
MIRT1480626	hsa-miR-3180-5p	CLIP-seq
MIRT1480627	hsa-miR-338-3p	CLIP-seq
MIRT1480628	hsa-miR-340	CLIP-seq
MIRT1480629	hsa-miR-3591-3p	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT1480631	hsa-miR-3655	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT1480634	hsa-miR-3943	CLIP-seq
MIRT1480635	hsa-miR-4282	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT1480637	hsa-miR-4436b-5p	CLIP-seq
MIRT1480638	hsa-miR-4477a	CLIP-seq
MIRT1480639	hsa-miR-4530	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT1480641	hsa-miR-4666-5p	CLIP-seq
MIRT1480642	hsa-miR-4700-3p	CLIP-seq
MIRT1480643	hsa-miR-4724-5p	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT1480646	hsa-miR-545	CLIP-seq
MIRT1480647	hsa-miR-548an	CLIP-seq
MIRT1480648	hsa-miR-548p	CLIP-seq
MIRT1480649	hsa-miR-571	CLIP-seq
MIRT1480650	hsa-miR-578	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT1480652	hsa-miR-634	CLIP-seq
MIRT1480653	hsa-miR-664	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT1480624	hsa-miR-3160-5p	CLIP-seq
MIRT2144592	hsa-miR-3166	CLIP-seq
MIRT2144593	hsa-miR-3179	CLIP-seq
MIRT1480626	hsa-miR-3180-5p	CLIP-seq
MIRT2144594	hsa-miR-3202	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2144595	hsa-miR-361-3p	CLIP-seq
MIRT1480631	hsa-miR-3655	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT2144596	hsa-miR-374a	CLIP-seq
MIRT2144597	hsa-miR-374b	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT2144598	hsa-miR-4290	CLIP-seq
MIRT2144599	hsa-miR-4418	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT1480637	hsa-miR-4436b-5p	CLIP-seq
MIRT2144600	hsa-miR-4476	CLIP-seq
MIRT1480639	hsa-miR-4530	CLIP-seq
MIRT2144601	hsa-miR-4632	CLIP-seq
MIRT2144602	hsa-miR-4639-5p	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT1480643	hsa-miR-4724-5p	CLIP-seq
MIRT2144603	hsa-miR-4729	CLIP-seq
MIRT2144604	hsa-miR-4763-5p	CLIP-seq
MIRT2144605	hsa-miR-4771	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT2144607	hsa-miR-509-3-5p	CLIP-seq
MIRT2144608	hsa-miR-509-5p	CLIP-seq
MIRT1480650	hsa-miR-578	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT2144611	hsa-miR-628-5p	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT1480622	hsa-miR-1226	CLIP-seq
MIRT2364965	hsa-miR-124	CLIP-seq
MIRT2364966	hsa-miR-1264	CLIP-seq
MIRT2364967	hsa-miR-1323	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT2144592	hsa-miR-3166	CLIP-seq
MIRT2364968	hsa-miR-3173-3p	CLIP-seq
MIRT2364969	hsa-miR-3177-5p	CLIP-seq
MIRT1480626	hsa-miR-3180-5p	CLIP-seq
MIRT2364970	hsa-miR-329	CLIP-seq
MIRT1480627	hsa-miR-338-3p	CLIP-seq
MIRT2364971	hsa-miR-346	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2364972	hsa-miR-3614-5p	CLIP-seq
MIRT2364973	hsa-miR-3616-3p	CLIP-seq
MIRT2364974	hsa-miR-3622a-3p	CLIP-seq
MIRT2364975	hsa-miR-3622b-3p	CLIP-seq
MIRT2364976	hsa-miR-362-3p	CLIP-seq
MIRT2364977	hsa-miR-3678-3p	CLIP-seq
MIRT2364978	hsa-miR-3714	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT2144596	hsa-miR-374a	CLIP-seq
MIRT2144597	hsa-miR-374b	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT2364979	hsa-miR-3941	CLIP-seq
MIRT2364980	hsa-miR-4276	CLIP-seq
MIRT1480635	hsa-miR-4282	CLIP-seq
MIRT2364981	hsa-miR-4305	CLIP-seq
MIRT2144599	hsa-miR-4418	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT2364982	hsa-miR-4480	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT1480639	hsa-miR-4530	CLIP-seq
MIRT2144601	hsa-miR-4632	CLIP-seq
MIRT2364984	hsa-miR-4637	CLIP-seq
MIRT2364985	hsa-miR-4645-3p	CLIP-seq
MIRT2364986	hsa-miR-4645-5p	CLIP-seq
MIRT2364987	hsa-miR-4673	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT1480642	hsa-miR-4700-3p	CLIP-seq
MIRT2364989	hsa-miR-4727-5p	CLIP-seq
MIRT2144604	hsa-miR-4763-5p	CLIP-seq
MIRT2364990	hsa-miR-4769-3p	CLIP-seq
MIRT2144605	hsa-miR-4771	CLIP-seq
MIRT2364991	hsa-miR-4779	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT2364992	hsa-miR-500a	CLIP-seq
MIRT2364993	hsa-miR-501-5p	CLIP-seq
MIRT2364994	hsa-miR-503	CLIP-seq
MIRT2364995	hsa-miR-506	CLIP-seq
MIRT2144607	hsa-miR-509-3-5p	CLIP-seq
MIRT2144608	hsa-miR-509-5p	CLIP-seq
MIRT2364996	hsa-miR-5096	CLIP-seq
MIRT2364997	hsa-miR-520d-5p	CLIP-seq
MIRT2364998	hsa-miR-524-5p	CLIP-seq
MIRT1480646	hsa-miR-545	CLIP-seq
MIRT1480647	hsa-miR-548an	CLIP-seq
MIRT2364999	hsa-miR-548o	CLIP-seq
MIRT1480648	hsa-miR-548p	CLIP-seq
MIRT1480649	hsa-miR-571	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT2365000	hsa-miR-603	CLIP-seq
MIRT2144611	hsa-miR-628-5p	CLIP-seq
MIRT1480652	hsa-miR-634	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2365001	hsa-miR-922	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT2364973	hsa-miR-3616-3p	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2396766	hsa-miR-767-5p	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2658722	hsa-miR-1273g	CLIP-seq
MIRT2658723	hsa-miR-1976	CLIP-seq
MIRT2658724	hsa-miR-2052	CLIP-seq
MIRT2658725	hsa-miR-2117	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2658726	hsa-miR-3148	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT1480625	hsa-miR-3163	CLIP-seq
MIRT2144593	hsa-miR-3179	CLIP-seq
MIRT2144594	hsa-miR-3202	CLIP-seq
MIRT1480628	hsa-miR-340	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2144595	hsa-miR-361-3p	CLIP-seq
MIRT2658727	hsa-miR-3688-5p	CLIP-seq
MIRT2658728	hsa-miR-3690	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT2658729	hsa-miR-3925-3p	CLIP-seq
MIRT1480634	hsa-miR-3943	CLIP-seq
MIRT2658730	hsa-miR-409-5p	CLIP-seq
MIRT2658731	hsa-miR-4254	CLIP-seq
MIRT2658732	hsa-miR-4277	CLIP-seq
MIRT2658733	hsa-miR-4312	CLIP-seq
MIRT2658734	hsa-miR-4318	CLIP-seq
MIRT2658735	hsa-miR-4325	CLIP-seq
MIRT2658736	hsa-miR-4423-5p	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT2658737	hsa-miR-4470	CLIP-seq
MIRT2144600	hsa-miR-4476	CLIP-seq
MIRT1480638	hsa-miR-4477a	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT2364985	hsa-miR-4645-3p	CLIP-seq
MIRT2364986	hsa-miR-4645-5p	CLIP-seq
MIRT1480641	hsa-miR-4666-5p	CLIP-seq
MIRT2658738	hsa-miR-4672	CLIP-seq
MIRT2364987	hsa-miR-4673	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT2658739	hsa-miR-4704-3p	CLIP-seq
MIRT1480643	hsa-miR-4724-5p	CLIP-seq
MIRT2658740	hsa-miR-4768-5p	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT2658741	hsa-miR-548ac	CLIP-seq
MIRT2658742	hsa-miR-548ae	CLIP-seq
MIRT2658743	hsa-miR-548aj	CLIP-seq
MIRT2658744	hsa-miR-548am	CLIP-seq
MIRT2658745	hsa-miR-548d-3p	CLIP-seq
MIRT2658746	hsa-miR-548x	CLIP-seq
MIRT2658747	hsa-miR-548z	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT2658748	hsa-miR-642b	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2658749	hsa-miR-766	CLIP-seq
MIRT2658750	hsa-miR-875-3p	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2658722	hsa-miR-1273g	CLIP-seq
MIRT2658723	hsa-miR-1976	CLIP-seq
MIRT2658725	hsa-miR-2117	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2658726	hsa-miR-3148	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT1480625	hsa-miR-3163	CLIP-seq
MIRT2144593	hsa-miR-3179	CLIP-seq
MIRT2144594	hsa-miR-3202	CLIP-seq
MIRT1480628	hsa-miR-340	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2144595	hsa-miR-361-3p	CLIP-seq
MIRT2658728	hsa-miR-3690	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT2658729	hsa-miR-3925-3p	CLIP-seq
MIRT1480634	hsa-miR-3943	CLIP-seq
MIRT2658730	hsa-miR-409-5p	CLIP-seq
MIRT2658731	hsa-miR-4254	CLIP-seq
MIRT2658732	hsa-miR-4277	CLIP-seq
MIRT2658733	hsa-miR-4312	CLIP-seq
MIRT2658734	hsa-miR-4318	CLIP-seq
MIRT2658735	hsa-miR-4325	CLIP-seq
MIRT2658736	hsa-miR-4423-5p	CLIP-seq
MIRT2144600	hsa-miR-4476	CLIP-seq
MIRT1480638	hsa-miR-4477a	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT2364985	hsa-miR-4645-3p	CLIP-seq
MIRT2364986	hsa-miR-4645-5p	CLIP-seq
MIRT2658738	hsa-miR-4672	CLIP-seq
MIRT2364987	hsa-miR-4673	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT2658739	hsa-miR-4704-3p	CLIP-seq
MIRT2658740	hsa-miR-4768-5p	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT2658741	hsa-miR-548ac	CLIP-seq
MIRT2658742	hsa-miR-548ae	CLIP-seq
MIRT2658743	hsa-miR-548aj	CLIP-seq
MIRT2658744	hsa-miR-548am	CLIP-seq
MIRT2658745	hsa-miR-548d-3p	CLIP-seq
MIRT2658746	hsa-miR-548x	CLIP-seq
MIRT2658747	hsa-miR-548z	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT2658748	hsa-miR-642b	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2658749	hsa-miR-766	CLIP-seq
MIRT2658750	hsa-miR-875-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF1	Unknown	7642633
NPM1	Unknown	23183427
SP1	Unknown	7642633
STAT3	Repression	22750444

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0002039	Function	P53 binding	IDA	20096447
GO:0004197	Function	Cysteine-type endopeptidase activity	IMP	21745816
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9827704
GO:0004843	Function	Cysteine-type deubiquitinase activity	EXP	26235645
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	16964248, 21745816, 26280536, 28655758, 33544460, 35216969
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	11923872, 26678539
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS	9130697
GO:0005515	Function	Protein binding	IPI	11279055, 11923872, 12093161, 15916963, 16402859, 16474402, 16713569, 16845383, 16964248, 17268548, 17936559, 18410486, 18566590, 18716620, 18729074, 20601937, 20697359, 21170034, 21258371, 21745816, 21988832, 22056774, 22466611, 22466612, 22653443, 22810586, 22863774, 23178491, 236
GO:0005634	Component	Nucleus	HDA	16791210
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11279055, 12093161, 16964248, 18410486, 20096447, 21258371, 26365382, 26678539
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9130697
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	11279055, 26365382
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IMP	22466612
GO:0006307	Process	DNA alkylation repair	IDA	25944111
GO:0006508	Process	Proteolysis	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010508	Process	Positive regulation of autophagy	IDA	22017875, 22017876
GO:0016567	Process	Protein ubiquitination	TAS
GO:0016579	Process	Protein deubiquitination	IDA	16964248, 21258371, 21745816, 25172512
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	11923872, 18410486, 26678539, 27123980
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016604	Component	Nuclear body	HDA	16791210
GO:0016605	Component	PML body	IDA	20719947
GO:0016605	Component	PML body	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031647	Process	Regulation of protein stability	IBA
GO:0031647	Process	Regulation of protein stability	IDA	27123980
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031669	Process	Cellular response to nutrient levels	IDA	32561715
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	26678539
GO:0032991	Component	Protein-containing complex	IDA	26678539
GO:0035520	Process	Monoubiquitinated protein deubiquitination	IDA	26280536
GO:0038202	Process	TORC1 signaling	IDA	12087098
GO:0042752	Process	Regulation of circadian rhythm	IDA	27123980
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IMP	21745816
GO:0045721	Process	Negative regulation of gluconeogenesis	IDA	28655758
GO:0048511	Process	Rhythmic process	IEA
GO:0050821	Process	Protein stabilization	IDA	21258371, 25172512, 35216969
GO:0050821	Process	Protein stabilization	IMP	18410486
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	IDA	16964248
GO:0070203	Process	Regulation of establishment of protein localization to telomere	IDA	25172512
GO:0075342	Process	Symbiont-mediated disruption of host cell PML body	IDA	20719947
GO:0101005	Function	Deubiquitinase activity	IMP	18410486
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	22017875, 22017876
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	35216969
GO:1904353	Process	Regulation of telomere capping	TAS	25172512
GO:1905279	Process	Regulation of retrograde transport, endosome to Golgi	IMP	26365382
GO:1990380	Function	K48-linked deubiquitinase activity	IDA	25944111

Other IDs

• MIM: 602519
• HGNC: 12630
• e!Ensembl: ENSG00000187555

Protein

• UniProt ID: Q93009
• Protein name: Ubiquitin carboxyl-terminal hydrolase 7 (EC 3.4.19.12) (Deubiquitinating enzyme 7) (Herpesvirus-associated ubiquitin-specific protease) (Ubiquitin thioesterase 7) (Ubiquitin-specific-processing protease 7)
• Protein function: Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:258657
• PDB: 1NB8, 1NBF, 1YY6, 1YZE, 2F1W, 2F1X, 2F1Y, 2F1Z, 2FOJ, 2FOO, 2FOP, 2KVR, 2XXN, 2YLM, 3MQR, 3MQS, 4JJQ, 4KG9, 4M5W, 4M5X, 4PYZ, 4WPH, 4WPI, 4YOC, 4YSI, 4Z96, 4Z97, 5C56, 5C6D, 5FWI, 5GG4, 5J7T, 5JTJ, 5JTV, 5KYB, 5KYC, 5KYD, 5KYE, 5KYF, 5N9R, 5N9T, 5NGE, 5NGF, 5UQV, 5UQX, 5VS6, 5VSB, 5VSK, 5WHC, 6F5H, 6M1K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00917	MATH	74 → 196	MATH domain	Domain
  PF00443	UCH	214 → 518	Ubiquitin carboxyl-terminal hydrolase	Family
  PF12436	USP7_ICP0_bdg	620 → 865	ICP0-binding domain of Ubiquitin-specific protease 7	Family
  PF14533	USP7_C2	875 → 1086	Ubiquitin-specific protease C-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neural progenitor cells (at protein level) (PubMed:21258371). Widely expressed. Overexpressed in prostate cancer. {ECO:0000269|PubMed:18716620, ECO:0000269|PubMed:21258371}.
• Sequence:

  MNHQQQQQQQKAGEQQLSEPEDMEMEAGDTDDPPRITQNPVINGNVALSDGHNTAEEDME
  DDTSWRSEATFQFTVERFSRLSESVLSPPCFVRNLPWKIMVMPRFYPDRPHQKSVGFFLQ
  CNAESDSTSWSCHAQAVLKIINYRDDEKSFSRRISHLFFHKENDWGFSNFMAWSEVTDPE
  KGFIDDDKVTFEVFVQADAPHGVAWDSKKHTGYVGLKNQGATCYMNSLLQTLFFTNQLRK
  AVYMMPTEGDDSSKSVPLALQRVFYELQHSDKPVGTKKLTKSFGWETLDSFMQHDVQELC
  RVLLDNVENKMKGTCVEGTIPKLFRGKMVSYIQCKEVDYRSDRREDYYDIQLSIKGKKNI
  FESFVDYVAVEQLDGDNKYDAGEHGLQEAEKGVKFLTLPPVLHLQLMRFMYDPQTDQNIK
  INDRFEFPEQLPLDEFLQKTDPKDPANYILHAVLVHSGDNHGGHYVVYLNPKGDGKWCKF
  DDDVVSRCTKEEAIEHNYGGHDDDLSVRHCTNAYMLVYIRESKLSEVLQAVTDHDIPQQL
  VERLQEEKRIEAQKRKERQEAHLYMQVQIVAEDQFCGHQGNDMYDEEKVKYTVFKVLKNS
  SLAEFVQSLSQTMGFPQDQIRLWPMQARSNGTKRPAMLDNEADGNKTMIELSDNENPWTI
  FLETVDPELAASGATLPKFDKDHDVMLFLKMYDPKTRSLNYCGHIYTPISCKIRDLLPVM
  CDRAGFIQDTSLILYEEVKPNLTERIQDYDVSLDKALDELMDGDIIVFQKDDPENDNSEL
  PTAKEYFRDLYHRVDVIFCDKTIPNDPGFVVTLSNRMNYFQVAKTVAQRLNTDPMLLQFF
  KSQGYRDGPGNPLRHNYEGTLRDLLQFFKPRQPKKLYYQQLKMKITDFENRRSFKCIWLN
  SQFREEEITLYPDKHGCVRDLLEECKKAVELGEKASGKLRLLEIVSYKIIGVHQEDELLE
  CLSPATSRTFRIEEIPLDQVDIDKENEMLVTVAHFHKEVFGTFGIPFLLRIHQGEHFREV
  MKRIQSLLDIQEKEFEKFKFAIVMMGRHQYINEDEYEVNLKDFEPQPGNMSHPRPWLGLD
  HFNKAPKRSRYTYLEKAIKIHN

• Sequence length: 1102

Pathways

KEGG:

Polycomb repressive complex
FoxO signaling pathway
Epstein-Barr virus infection
Viral carcinogenesis

Reactome:

Ub-specific processing proteases
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Regulation of TP53 Degradation
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Regulation of PTEN localization

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
Gastric cancer	Pathogenic	rs2549212884	RCV005939468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hao-Fountain syndrome	Likely pathogenic; Pathogenic	rs2141215483, rs2141186036, rs2141167019, rs2141200474, rs2141202964, rs2141190525, rs2549250330, rs2549240624, rs2549242516, rs2549244919, rs756550597, rs2549225175, rs2549230941, rs2549244890, rs2549232757, rs2549241840, rs2549242612, rs2549223409, rs2549222611, rs1480900512, rs1244772203, rs1555465642, rs1555462347, rs2061808524, rs2061653217	RCV003224889 RCV001788549 RCV002290715 RCV001728152 RCV001775225 RCV002052174 RCV002302846 RCV002302847 RCV002302848 RCV002471786 RCV000210289 RCV002810044 RCV003224904 RCV003224905 RCV003224908 RCV003224909 RCV003224910 RCV003224911 RCV003224912 RCV003315087 RCV003315088 RCV001175170 RCV001175169 RCV001175168 RCV001175171	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hao-Fountain syndrome due to USP7 mutation	Pathogenic; Likely pathogenic	rs2549212884, rs2549220874, rs2549229217, rs2061841667	RCV004555389 RCV004560482 RCV004595271 RCV004776301	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Likely pathogenic; Pathogenic	rs2141167019	RCV001526521	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2141185978	RCV001526598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs2549246727	RCV005930948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs2549246727	RCV005230477	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1272068741	RCV001780066	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
USP7-related disorder	Likely pathogenic	rs2549242612, rs763721668, rs1555462347	RCV005429102 RCV003397847 RCV000625999	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
16P13.2 MICRODELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC MACULOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USP7-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
16p13.2 microdeletion syndrome	16p13.2 Deletion Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30938820		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15942648		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16450335, 25519684, 26678539		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29045831		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30938820		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28137592		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	31278054	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	23089923	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26365382, 30679821	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26365382, 30679821		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	34128869	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic bladder dysfunction	Dysautonomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	26039340		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30786932		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23348568, 23508821, 27183383, 28288134, 28325877, 28650472, 30179224, 31068665, 31518603, 31833203		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23508821, 28325877, 31833203	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27183383	Stimulate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	30617194	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31527801, 32029476, 33207738, 36878903	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16450335, 9428630		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29574466	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35414777, 35732625, 37408047, 38279869	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	31801860, 35775490	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30786932		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25695151, 30905413		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27302477	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33544460	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27302477		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30179224		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30179224		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30938820		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28137592		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	7775450, 8621623, 9259314		★☆☆☆☆ Found in Text Mining only
CHROMOSOME 16p13.2 DELETION SYNDROME	16p13.2 Deletion Syndrome	ORPHANET_DG	26365382		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28418900, 28495793		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	23760561		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	31775559		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18418047, 22750444, 28587923, 30697058		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22901115, 28216017, 29045831		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28216017		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32029476	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	31775559		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	34128869	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26365382, 30679821	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23089923		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23089923	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27302477		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30182448		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24335168	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30182448		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	30679821	Associate	★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	29192133		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28251352	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	30679821	Associate	★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	25349215		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27632941		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38254206	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18260157, 27632941		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23483195, 27632941		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30679821		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28495793		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29507645		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	33780361	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27183383	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	28251352	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	30679821		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	30679821	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27934968	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39488705	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29541367		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26365382		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26365382, 30679821	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	22514345, 29343584		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33544460	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	30679821	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24710217, 30224337		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36490346, 9428630	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	30224337		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26129839, 29574466, 30679505, 30834688		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33207738, 37946202	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28656291		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27302477	Associate	★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23348568, 23508821, 27183383, 28288134, 28325877, 28650472, 30179224, 31068665, 31518603, 31833203		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24335168, 30182448		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25695151, 30905413		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29049989		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18716620, 20855462, 26175158, 28415632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	26039340		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30786932		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17909009, 18716620, 21468693, 23348568, 25003721, 25349215, 26129839, 27618649, 27927749, 28108249, 28137592, 28621941, 28768102, 29065837, 29200206, 29967688, 30026332, 30367141, 30542736, 30807924, 31114498, 31653879, 31730000, 31801860		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30179224		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22750444, 27302477, 28587923, 30697058		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28137592		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	30227871	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30026332		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36130505	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	25003721	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22975377, 29863498, 30024656		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31822558, 35414773	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	35627274	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	37373211	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	25082234		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	39488705	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21305000		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	21305000	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	38129408	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11118619, 11711542, 11923872, 18418047, 22750444, 23483195, 27302477, 27590858, 27618649, 28768102, 29574466, 29781103, 29967688, 30344943, 31647545		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24136231, 27618649		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37298148, 37762082	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26365382, 30679821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16450335, 25519684, 27590858, 28406480, 30905413		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30542736		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29049989	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34854226	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26365382		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30224337, 30370059		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18716620, 20855462, 26175158, 28415632		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20855462, 26175158, 28415632	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27302477	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	29343584	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	33361335	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30679821	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25884169, 9428630	Associate	★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	30679821		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16450335, 25519684		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30182448		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35931679, 36878903	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	25519684		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30367141, 37449524	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36291159	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30786932	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Neoplasms	Urogenital neoplasm	Pubtator	25349215	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30179224	Stimulate	★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	23760561		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	39488705	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	25435364		★☆☆☆☆ Found in Text Mining only