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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	85015
Gene name	Ubiquitin specific peptidase 45
Gene symbol	USP45
Synonyms (NCBI Gene)	LCA19
Chromosome	6
Chromosome location	6q16.2
Summary	The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protei

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Show/Hide all (167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026646	hsa-miR-192-5p	Microarray	19074876
MIRT028362	hsa-miR-32-5p	Sequencing	20371350
MIRT051365	hsa-let-7f-5p	CLASH	23622248
MIRT569069	hsa-miR-3662	PAR-CLIP	20371350
MIRT569068	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569067	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT569066	hsa-miR-520g-5p	PAR-CLIP	20371350
MIRT569065	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT569064	hsa-miR-3148	PAR-CLIP	20371350
MIRT569063	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT569062	hsa-miR-630	PAR-CLIP	20371350
MIRT569061	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT569060	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT569059	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT569058	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT569057	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT569056	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT569055	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT569054	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT569053	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT569052	hsa-miR-526a	PAR-CLIP	20371350
MIRT569050	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT569051	hsa-miR-3149	PAR-CLIP	20371350
MIRT569069	hsa-miR-3662	PAR-CLIP	20371350
MIRT569068	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569067	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT569066	hsa-miR-520g-5p	PAR-CLIP	20371350
MIRT569065	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT569064	hsa-miR-3148	PAR-CLIP	20371350
MIRT569063	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT569062	hsa-miR-630	PAR-CLIP	20371350
MIRT569061	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT569060	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT569059	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT569058	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT569057	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT569056	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT569055	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT569054	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT569053	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT569052	hsa-miR-526a	PAR-CLIP	20371350
MIRT569050	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT569051	hsa-miR-3149	PAR-CLIP	20371350
MIRT1479787	hsa-miR-1184	CLIP-seq
MIRT1479788	hsa-miR-1205	CLIP-seq
MIRT1479789	hsa-miR-125a-5p	CLIP-seq
MIRT1479790	hsa-miR-125b	CLIP-seq
MIRT1479791	hsa-miR-1273f	CLIP-seq
MIRT1479792	hsa-miR-1286	CLIP-seq
MIRT1479793	hsa-miR-1291	CLIP-seq
MIRT1479794	hsa-miR-1323	CLIP-seq
MIRT1479795	hsa-miR-143	CLIP-seq
MIRT1479796	hsa-miR-28-3p	CLIP-seq
MIRT1479797	hsa-miR-3158-5p	CLIP-seq
MIRT1479798	hsa-miR-3199	CLIP-seq
MIRT1479799	hsa-miR-328	CLIP-seq
MIRT1479800	hsa-miR-3529	CLIP-seq
MIRT1479801	hsa-miR-3609	CLIP-seq
MIRT1479802	hsa-miR-3616-5p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479804	hsa-miR-3647-3p	CLIP-seq
MIRT1479805	hsa-miR-3647-5p	CLIP-seq
MIRT1479806	hsa-miR-3650	CLIP-seq
MIRT1479807	hsa-miR-379	CLIP-seq
MIRT1479808	hsa-miR-3927	CLIP-seq
MIRT1479809	hsa-miR-4282	CLIP-seq
MIRT1479810	hsa-miR-4319	CLIP-seq
MIRT1479811	hsa-miR-4324	CLIP-seq
MIRT1479812	hsa-miR-4477b	CLIP-seq
MIRT1479813	hsa-miR-4643	CLIP-seq
MIRT1479814	hsa-miR-4648	CLIP-seq
MIRT1479815	hsa-miR-466	CLIP-seq
MIRT1479816	hsa-miR-4694-3p	CLIP-seq
MIRT1479817	hsa-miR-4699-3p	CLIP-seq
MIRT1479818	hsa-miR-4708-5p	CLIP-seq
MIRT1479819	hsa-miR-4709-3p	CLIP-seq
MIRT1479820	hsa-miR-4722-5p	CLIP-seq
MIRT1479821	hsa-miR-4763-5p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT1479823	hsa-miR-4770	CLIP-seq
MIRT1479824	hsa-miR-4789-3p	CLIP-seq
MIRT1479825	hsa-miR-4793-3p	CLIP-seq
MIRT1479826	hsa-miR-4795-5p	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT1479829	hsa-miR-513a-3p	CLIP-seq
MIRT1479830	hsa-miR-520g	CLIP-seq
MIRT1479831	hsa-miR-520h	CLIP-seq
MIRT1479832	hsa-miR-522	CLIP-seq
MIRT1479833	hsa-miR-548ag	CLIP-seq
MIRT1479834	hsa-miR-548ah	CLIP-seq
MIRT1479835	hsa-miR-548ai	CLIP-seq
MIRT1479836	hsa-miR-548g	CLIP-seq
MIRT1479837	hsa-miR-548o	CLIP-seq
MIRT1479838	hsa-miR-573	CLIP-seq
MIRT1479839	hsa-miR-590-3p	CLIP-seq
MIRT1479840	hsa-miR-607	CLIP-seq
MIRT1479841	hsa-miR-619	CLIP-seq
MIRT1479842	hsa-miR-633	CLIP-seq
MIRT1479843	hsa-miR-643	CLIP-seq
MIRT2144446	hsa-miR-1182	CLIP-seq
MIRT2144447	hsa-miR-2681	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479806	hsa-miR-3650	CLIP-seq
MIRT2144448	hsa-miR-3682-5p	CLIP-seq
MIRT2144449	hsa-miR-3685	CLIP-seq
MIRT2144450	hsa-miR-384	CLIP-seq
MIRT2144451	hsa-miR-3942-3p	CLIP-seq
MIRT2144452	hsa-miR-433	CLIP-seq
MIRT1479813	hsa-miR-4643	CLIP-seq
MIRT2144453	hsa-miR-4694-5p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT2144454	hsa-miR-483-3p	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT1479832	hsa-miR-522	CLIP-seq
MIRT2364663	hsa-miR-1183	CLIP-seq
MIRT2364664	hsa-miR-1265	CLIP-seq
MIRT2364665	hsa-miR-1343	CLIP-seq
MIRT2364666	hsa-miR-1915	CLIP-seq
MIRT2364667	hsa-miR-2054	CLIP-seq
MIRT2364668	hsa-miR-2355-5p	CLIP-seq
MIRT1479796	hsa-miR-28-3p	CLIP-seq
MIRT2364669	hsa-miR-3124-3p	CLIP-seq
MIRT2364670	hsa-miR-3150b-3p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479804	hsa-miR-3647-3p	CLIP-seq
MIRT2144449	hsa-miR-3685	CLIP-seq
MIRT2364671	hsa-miR-378g	CLIP-seq
MIRT2144450	hsa-miR-384	CLIP-seq
MIRT2364672	hsa-miR-3936	CLIP-seq
MIRT2364673	hsa-miR-4286	CLIP-seq
MIRT2364674	hsa-miR-4437	CLIP-seq
MIRT2364675	hsa-miR-4459	CLIP-seq
MIRT2364676	hsa-miR-4659a-3p	CLIP-seq
MIRT2364677	hsa-miR-4659b-3p	CLIP-seq
MIRT2364678	hsa-miR-4674	CLIP-seq
MIRT1479817	hsa-miR-4699-3p	CLIP-seq
MIRT1479819	hsa-miR-4709-3p	CLIP-seq
MIRT2364679	hsa-miR-4726-3p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT2364680	hsa-miR-4778-5p	CLIP-seq
MIRT2364681	hsa-miR-4784	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT2364682	hsa-miR-548a-3p	CLIP-seq
MIRT2364683	hsa-miR-548an	CLIP-seq
MIRT2364684	hsa-miR-548e	CLIP-seq
MIRT2364685	hsa-miR-548f	CLIP-seq
MIRT1479836	hsa-miR-548g	CLIP-seq
MIRT2364686	hsa-miR-570	CLIP-seq
MIRT1479839	hsa-miR-590-3p	CLIP-seq
MIRT2364687	hsa-miR-616	CLIP-seq
MIRT2364688	hsa-miR-664	CLIP-seq
MIRT2364689	hsa-miR-765	CLIP-seq
MIRT2364690	hsa-miR-892a	CLIP-seq
MIRT2364666	hsa-miR-1915	CLIP-seq
MIRT2364670	hsa-miR-3150b-3p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT2364675	hsa-miR-4459	CLIP-seq
MIRT2364676	hsa-miR-4659a-3p	CLIP-seq
MIRT2364677	hsa-miR-4659b-3p	CLIP-seq
MIRT2364679	hsa-miR-4726-3p	CLIP-seq
MIRT2364681	hsa-miR-4784	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT2364689	hsa-miR-765	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IDA	30573563
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0003407	Process	Neural retina development	ISS
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	14715245
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	25538220, 30258100
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	25538220, 30258100
GO:0005634	Component	Nucleus	IDA	25538220
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	25538220
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IMP	25538220
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016477	Process	Cell migration	IMP	30258100
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	25538220
GO:0016787	Function	Hydrolase activity	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0070911	Process	Global genome nucleotide-excision repair	TAS

MIM	HGNC	e!Ensembl
618439	20080	ENSG00000123552

Q70EL2

Protein name

Ubiquitin carboxyl-terminal hydrolase 45 (EC 3.4.19.12) (Deubiquitinating enzyme 45) (Ubiquitin thioesterase 45) (Ubiquitin-specific-processing protease 45)

Protein function

Catalyzes the deubiquitination of SPDL1 (PubMed:30258100). Plays a role in the repair of UV-induced DNA damage via deubiquitination of ERCC1, promoting its recruitment to DNA damage sites (PubMed:25538220). May be involved in the maintenance of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02148	zf-UBP	61 → 139	Zn-finger in ubiquitin-hydrolases and other protein	Domain
PF00443	UCH	190 → 810	Ubiquitin carboxyl-terminal hydrolase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. High expression is detected in the cerebellum. In the eye, it is expressed at high levels in the optic nerve, sclera and retina, with relatively low levels in the choroid, lens and retinal pigment epithelium (PubMed:3

Sequence

MRVKDPTKALPEKAKRSKRPTVPHDEDSSDDIAVGLTCQHVSHAISVNHVKRAIAENLWS
VCSECLKERRFYDGQLVLTSDIWLCLKCGFQGCGKNSESQHSLKHFKSSRTEPHCIIINL
STWIIWCYECDEKLSTHCNKKVLAQIVDFLQKHASKTQTSAFSRIMKLCEEKCETDEIQK
GGKCRNLSVRGITNLGNTCFFNAVMQNLAQTYTLTDLMNEIKESSTKLKIFPSSDSQLDP
LVVELSRPGPLTSALFLFLHSMKETEKGPLSPKVLFNQLCQKAPRFKDFQQQDSQELLHY
LLDAVRTEETKRIQASILKAFNNPTTKTADDETRKKVKAYGKEGVKMNFIDRIFIGELTS
TVMCEECANISTVKDPFIDISLPIIEERVSKPLLWGRMNKYRSLRETDHDRYSGNVTIEN
IHQPRAAKKHSSSKDKSQLIHDRKCIRKLSSGETVTYQKNENLEMNGDSLMFASLMNSES
RLNESPTDDSEKEASHSESNVDADSEPSESESASKQTGLFRSSSGSGVQPDGPLYPLSAG
KLLYTKETDSGDKEMAEAISELRLSSTVTGDQDFDRENQPLNISNNLCFLEGKHLRSYSP
QNAFQTLSQSYITTSKECSIQSCLYQFTSMELLMGNNKLLCENCTKNKQKYQEETSFAEK
KVEGVYTNARKQLLISAVPAVLILHLKRFHQAGLSLRKVNRHVDFPLMLDLAPFCSATCK
NASVGDKVLYGLYGIVEHSGSMREGHYTAYVKVRTPSRKLSEHNTKKKNVPGLKAADNES
AGQWVHVSDTYLQVVPESRALSAQAYLLFYERVL

Sequence length

814

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		Formation of Incision Complex in GG-NER

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leber congenital amaurosis 19	Pathogenic	rs202240410	RCV000790538	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Pathogenic; Likely pathogenic	rs141844660, rs1562308994, rs1562391520, rs1562456317	RCV000736193 RCV000736192 RCV000736194 RCV000736195	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USP45-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30809043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	30573563		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	30573563		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29389935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

USP45 (ubiquitin specific peptidase 45)