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	7345
Gene name	Ubiquitin C-terminal hydrolase L1
Gene symbol	UCHL1
Synonyms (NCBI Gene)	HEL-117HEL-S-53NDGOAPARK5PGP 9.5PGP9.5PGP95SPG79SPG79AUCHL-1Uch-L1
Chromosome	4
Chromosome location	4p13
Summary	The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neu

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917767	C>A,G,T	Risk-factor	Missense variant, coding sequence variant, synonymous variant
rs768996179	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519600	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554004920	->AGAG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554004931	T>C,G	Likely-pathogenic	Splice donor variant

157

Show/Hide all (157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048928	hsa-miR-92a-3p	CLASH	23622248
MIRT047324	hsa-miR-181a-5p	CLASH	23622248
MIRT041399	hsa-miR-193b-3p	CLASH	23622248
MIRT037262	hsa-miR-877-5p	CLASH	23622248
MIRT256053	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT256053	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT2434435	hsa-miR-151-3p	CLIP-seq
MIRT2434436	hsa-miR-217	CLIP-seq
MIRT2434437	hsa-miR-3973	CLIP-seq
MIRT2434438	hsa-miR-4463	CLIP-seq
MIRT2434439	hsa-miR-4499	CLIP-seq
MIRT2434440	hsa-miR-518a-3p	CLIP-seq
MIRT2434441	hsa-miR-518b	CLIP-seq
MIRT2434442	hsa-miR-518c	CLIP-seq
MIRT2434443	hsa-miR-518d-3p	CLIP-seq
MIRT2434444	hsa-miR-518f	CLIP-seq
MIRT2434445	hsa-miR-562	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2656826	hsa-miR-1184	CLIP-seq
MIRT2656827	hsa-miR-1205	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2656828	hsa-miR-1254	CLIP-seq
MIRT2656829	hsa-miR-127-5p	CLIP-seq
MIRT2656830	hsa-miR-1278	CLIP-seq
MIRT2656831	hsa-miR-187	CLIP-seq
MIRT2656832	hsa-miR-197	CLIP-seq
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT2656833	hsa-miR-298	CLIP-seq
MIRT2656834	hsa-miR-300	CLIP-seq
MIRT2656835	hsa-miR-302a	CLIP-seq
MIRT2656836	hsa-miR-302b	CLIP-seq
MIRT2656837	hsa-miR-302c	CLIP-seq
MIRT2656838	hsa-miR-302d	CLIP-seq
MIRT2656839	hsa-miR-302e	CLIP-seq
MIRT2656840	hsa-miR-3116	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT2656841	hsa-miR-3150a-3p	CLIP-seq
MIRT2656842	hsa-miR-3158-5p	CLIP-seq
MIRT2656843	hsa-miR-3175	CLIP-seq
MIRT2656844	hsa-miR-3184	CLIP-seq
MIRT2656845	hsa-miR-342-3p	CLIP-seq
MIRT2656846	hsa-miR-346	CLIP-seq
MIRT2656847	hsa-miR-3617	CLIP-seq
MIRT2656848	hsa-miR-372	CLIP-seq
MIRT2656849	hsa-miR-373	CLIP-seq
MIRT2656850	hsa-miR-381	CLIP-seq
MIRT2434437	hsa-miR-3973	CLIP-seq
MIRT2656851	hsa-miR-3977	CLIP-seq
MIRT2656852	hsa-miR-412	CLIP-seq
MIRT2656853	hsa-miR-423-5p	CLIP-seq
MIRT2656854	hsa-miR-4271	CLIP-seq
MIRT2656855	hsa-miR-4288	CLIP-seq
MIRT2656856	hsa-miR-4455	CLIP-seq
MIRT2656857	hsa-miR-4457	CLIP-seq
MIRT2656858	hsa-miR-4474-3p	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2656859	hsa-miR-4667-5p	CLIP-seq
MIRT2656860	hsa-miR-4700-5p	CLIP-seq
MIRT2656861	hsa-miR-4720-3p	CLIP-seq
MIRT2656862	hsa-miR-4724-5p	CLIP-seq
MIRT2656863	hsa-miR-4725-3p	CLIP-seq
MIRT2656864	hsa-miR-4747-5p	CLIP-seq
MIRT2656865	hsa-miR-4773	CLIP-seq
MIRT2656866	hsa-miR-4804-3p	CLIP-seq
MIRT2656867	hsa-miR-513b	CLIP-seq
MIRT2656868	hsa-miR-515-3p	CLIP-seq
MIRT2434440	hsa-miR-518a-3p	CLIP-seq
MIRT2434441	hsa-miR-518b	CLIP-seq
MIRT2434442	hsa-miR-518c	CLIP-seq
MIRT2434443	hsa-miR-518d-3p	CLIP-seq
MIRT2434444	hsa-miR-518f	CLIP-seq
MIRT2656869	hsa-miR-519a	CLIP-seq
MIRT2656870	hsa-miR-519b-3p	CLIP-seq
MIRT2656871	hsa-miR-519c-3p	CLIP-seq
MIRT2656872	hsa-miR-519e	CLIP-seq
MIRT2656873	hsa-miR-520a-3p	CLIP-seq
MIRT2656874	hsa-miR-520b	CLIP-seq
MIRT2656875	hsa-miR-520c-3p	CLIP-seq
MIRT2656876	hsa-miR-520d-3p	CLIP-seq
MIRT2656877	hsa-miR-520e	CLIP-seq
MIRT2656878	hsa-miR-550a	CLIP-seq
MIRT2434445	hsa-miR-562	CLIP-seq
MIRT2656879	hsa-miR-609	CLIP-seq
MIRT2656880	hsa-miR-632	CLIP-seq
MIRT2656881	hsa-miR-636	CLIP-seq
MIRT2656882	hsa-miR-641	CLIP-seq
MIRT2656883	hsa-miR-644	CLIP-seq
MIRT2656884	hsa-miR-661	CLIP-seq
MIRT2656885	hsa-miR-939	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2656828	hsa-miR-1254	CLIP-seq
MIRT2656829	hsa-miR-127-5p	CLIP-seq
MIRT2656832	hsa-miR-197	CLIP-seq
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT2656834	hsa-miR-300	CLIP-seq
MIRT2656835	hsa-miR-302a	CLIP-seq
MIRT2656836	hsa-miR-302b	CLIP-seq
MIRT2656837	hsa-miR-302c	CLIP-seq
MIRT2656838	hsa-miR-302d	CLIP-seq
MIRT2656839	hsa-miR-302e	CLIP-seq
MIRT2656840	hsa-miR-3116	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT2656841	hsa-miR-3150a-3p	CLIP-seq
MIRT2656843	hsa-miR-3175	CLIP-seq
MIRT2656844	hsa-miR-3184	CLIP-seq
MIRT2656845	hsa-miR-342-3p	CLIP-seq
MIRT2656847	hsa-miR-3617	CLIP-seq
MIRT2656848	hsa-miR-372	CLIP-seq
MIRT2656849	hsa-miR-373	CLIP-seq
MIRT2656850	hsa-miR-381	CLIP-seq
MIRT2434437	hsa-miR-3973	CLIP-seq
MIRT2656851	hsa-miR-3977	CLIP-seq
MIRT2656852	hsa-miR-412	CLIP-seq
MIRT2656853	hsa-miR-423-5p	CLIP-seq
MIRT2656856	hsa-miR-4455	CLIP-seq
MIRT2656858	hsa-miR-4474-3p	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2656859	hsa-miR-4667-5p	CLIP-seq
MIRT2656860	hsa-miR-4700-5p	CLIP-seq
MIRT2656861	hsa-miR-4720-3p	CLIP-seq
MIRT2656865	hsa-miR-4773	CLIP-seq
MIRT2656866	hsa-miR-4804-3p	CLIP-seq
MIRT2656868	hsa-miR-515-3p	CLIP-seq
MIRT2434440	hsa-miR-518a-3p	CLIP-seq
MIRT2434441	hsa-miR-518b	CLIP-seq
MIRT2434442	hsa-miR-518c	CLIP-seq
MIRT2434443	hsa-miR-518d-3p	CLIP-seq
MIRT2434444	hsa-miR-518f	CLIP-seq
MIRT2656869	hsa-miR-519a	CLIP-seq
MIRT2656870	hsa-miR-519b-3p	CLIP-seq
MIRT2656871	hsa-miR-519c-3p	CLIP-seq
MIRT2656872	hsa-miR-519e	CLIP-seq
MIRT2656873	hsa-miR-520a-3p	CLIP-seq
MIRT2656874	hsa-miR-520b	CLIP-seq
MIRT2656875	hsa-miR-520c-3p	CLIP-seq
MIRT2656876	hsa-miR-520d-3p	CLIP-seq
MIRT2656877	hsa-miR-520e	CLIP-seq
MIRT2656878	hsa-miR-550a	CLIP-seq
MIRT2434445	hsa-miR-562	CLIP-seq
MIRT2656879	hsa-miR-609	CLIP-seq
MIRT2656881	hsa-miR-636	CLIP-seq
MIRT2656882	hsa-miR-641	CLIP-seq
MIRT2656883	hsa-miR-644	CLIP-seq
MIRT2656884	hsa-miR-661	CLIP-seq
MIRT2656885	hsa-miR-939	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002176	Process	Male germ cell proliferation	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	8639624
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	9521656
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	34244144
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	12082530, 16049941, 16169070, 19615732, 20029029, 21044950, 23543736, 31980649, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19477270
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	19477270
GO:0006508	Process	Proteolysis	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007412	Process	Axon target recognition	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008242	Function	Omega peptidase activity	IDA	9521656
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	TAS	24879150
GO:0016579	Process	Protein deubiquitination	IDA	9521656
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019896	Process	Axonal transport of mitochondrion	IEA
GO:0030163	Process	Protein catabolic process	IBA
GO:0030424	Component	Axon	IEA
GO:0030547	Function	Signaling receptor inhibitor activity	IDA	19477270
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19725078
GO:0031694	Function	Alpha-2A adrenergic receptor binding	IPI	19477270
GO:0042755	Process	Eating behavior	IEA
GO:0043022	Function	Ribosome binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043130	Function	Ubiquitin binding	IDA	9521656
GO:0043130	Function	Ubiquitin binding	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	24252804
GO:0043409	Process	Negative regulation of MAPK cascade	IDA	19477270
GO:0044306	Component	Neuron projection terminus	IEA
GO:0045821	Process	Positive regulation of glycolytic process	IMP	34244144
GO:0050905	Process	Neuromuscular process	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
191342	12513	ENSG00000154277

P09936

Protein name

Ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCH-L1) (EC 3.4.19.12) (Neuron cytoplasmic protein 9.5) (PGP 9.5) (PGP9.5) (Ubiquitin thioesterase L1)

Protein function

Deubiquitinase that plays a role in the regulation of several processes such as maintenance of synaptic function, cardiac function, inflammatory response or osteoclastogenesis (PubMed:22212137, PubMed:23359680). Abrogates the ubiquitination of m

PDB

2ETL , 2LEN , 3IFW , 3IRT , 3KVF , 3KW5 , 4DM9 , 4JKJ , 7ZM0 , 8DY8 , 8EDE , 8PW1 , 8XI7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01088	Peptidase_C12	3 → 206	Ubiquitin carboxyl-terminal hydrolase, family 1	Domain

Tissue specificity

TISSUE SPECIFICITY: Found in neuronal cell bodies and processes throughout the neocortex (at protein level). Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary. Down-regulated in brains from Par

Sequence

MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHE
NFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSE
TEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMP
FPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA

Sequence length

223

Interactions

View interactions

	KEGG		Reactome
	Parkinson disease Pathways of neurodegeneration - multiple diseases		UCH proteinases

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
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Pathogenic; Likely pathogenic	rs1057519600, rs1554004931, rs397515634	RCV000417145 RCV000625742 RCV000074332	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 79A, autosomal dominant, with ataxia	Pathogenic; Likely pathogenic	rs2154087189, rs749368841, rs1781002042, rs2551922153, rs1310363710, rs1781001592, rs1781070341	RCV004785554 RCV003152652 RCV003152407 RCV003152408 RCV003992109 RCV003225965 RCV003152622 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (30)

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.
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST BENIGN NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ 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
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET PROGRESSIVE NEURODEGENERATION, BLINDNESS, ATAXIA, SPASTICITY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease 5, autosomal dominant, susceptibility to	Likely benign; Conflicting classifications of pathogenicity; risk factor; Benign; Uncertain significance	ClinVar CTD, ClinVar CTD, ClinVar	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease, Dominant	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UCHL1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; 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	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG-ONSET PARKINSON DISEASE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (268)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal male sexual function	Abnormal Male Sexual Function	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	1386525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	7756180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17929277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18820670, 21878121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	12114434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	26264933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26702068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	14722078, 22726800	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21298373, 21878121, 22532456, 32560738, 33754896, 34556089, 37454217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	16923396, 27324898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31072331, 31721001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31072331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	28635516, 28940383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	31132788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	37390278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	35986737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31700166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial myxoma familial	Atrial myxoma	Pubtator	1531423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	BEFREE	11455179		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	3052023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Berylliosis	Berylliosis	Pubtator	2139099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39600279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	25516911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	19726976	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	29969943, 35028617, 38643415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	23315218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18949367, 22279545, 23315218, 23664488, 23996067, 26293643, 28334432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16734731, 18949367, 23996067, 26722437, 28636190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22279545	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	20187292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26823707, 28688920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19360301, 23996067, 31370144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	24996968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	24996968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29627846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	31845438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28688920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18820670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39520970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	2986665, 35400238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15736404, 21878121, 31370144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	39520970	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	32656641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	21268678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	21268678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	1386525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	36128917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30760601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27702698, 28434268, 30760601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16402389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29359783		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	32560738	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17994469, 20524204, 22641175, 26314856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17994469, 19035297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19035297, 21480205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	1386525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	31561093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29359783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18499164, 19857250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	2530154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	29401475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20147297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	20147297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	31770146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22688354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29959188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22038515, 24879150, 26222784, 28116572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22038515, 24879150, 26222784, 28116572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20980462, 24879150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27571062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26702068, 27013211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29489474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29489474, 32486284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23670619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25047272	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32240297, 37405438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30253122, 30952062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	15930319		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19472401, 35382656	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15736404, 16965602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	30689542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	28612287		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	30425621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	23555160		★★★★★ ★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	CTD_human_DG	16965602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	16965602, 19035297, 25066711	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallstones	Gallstones	Pubtator	16965602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	30359286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28472177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28472177, 32572885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31449350	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	25976522, 28116572		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis IGA	Iga nephropathy	Pubtator	39696012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31449350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	31449350	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	28667290	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22279545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	11854929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	1285018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11372737, 7914127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	2675617, 8966716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	12123845, 16369839, 19683447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	16369839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	16644676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	29667913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	30070096, 30178296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29307588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31199012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36267810	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	29358881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28651886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	30689542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24314660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23567262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22849656, 36830563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	11570907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	22510739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	14736767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	16380264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18666234, 29627846, 29846044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18666234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	18666234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31449350	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10487828, 19116456, 25516911	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15491288, 26245297, 28688920, 31845438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17108109, 18820707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	20574456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30418114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	25976522, 28116572, 30805933, 31811410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19035297, 26550574, 26722437, 35400238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32572885	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20574456, 21504384, 26702068, 2801883		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	21504384, 24314660	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	29959188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Male sexual dysfunction	Male sexual dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28472177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22279545, 23315218, 23664488, 23996067, 26293643, 28334432, 28636190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29489474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	15930319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	CTD_human_DG	16965602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	18666234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17108109, 28688920, 31845438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16642472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12839967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21310527, 21999842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26018507, 26550574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16889486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17108109, 18820707, 20574456, 21310527, 21504384, 21878121, 22279545, 23499448, 23543736, 23555160, 24314660, 24583340, 25403879, 25915537, 26018507 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27935410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18949367		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18820707		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22028813, 23686552, 28392346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28392346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	24583340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	22964784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29959188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	39520970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28651886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36267810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	26222784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37884924	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	10487828	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15491288, 34257568, 9771441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26513019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	19204867		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, 3	Myofibrillar myopathy	BEFREE	17823282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20395212, 23790641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20473931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15338374, 16402389, 18499164, 18666234, 19857250, 20395212, 21878121, 21999842, 22279545, 23315218, 23543736, 23686552, 23996067, 24854489, 25578779 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	25976522, 27571062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	29307588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35986737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21878121, 27857231, 30418114, 30760601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18411255, 22726800, 26444754, 30359286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18520032, 30359286, 9192981, 9591338	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16537382, 23359680, 31072331, 32656641, 33028204, 35986737, 38185323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17586089, 18250096, 19204867, 19879917, 21251915, 22038515, 25403879, 26899237, 27702698, 28116572, 28434268, 28754552, 29453387, 30429647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	17925890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	30689542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28526880, 29150024, 30689542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	11570907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	30418114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	17094902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19816938, 21878121, 31845438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23975165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	25403879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	35986737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	20949132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25578779		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16642472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24086249, 39520970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	19017757, 20051478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	19017757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	34697069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10203348, 10454131, 10665491, 10923647, 11027850, 11535241, 11697518, 11782995, 12056932, 12210873, 12408865, 12539205, 12666100, 12705903, 12775255 View all (61 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	12408865, 12784265, 15048890, 15221445, 15228595, 18250096, 18841579		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	14722078, 17203291	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	15718234, 16537382, 20439756, 21268678, 21298373, 21345711, 21412835, 21875422, 21878121, 22135858, 22839974, 24742361, 25516911, 28765971, 32486284, 33028204, 35482760 View all (2 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT	Parkinson disease	GENOMICS_ENGLAND_DG	10048490		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT	Parkinson disease	UNIPROT_DG	12408865, 12705903, 9774100		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT	Parkinson disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT	Parkinson disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	11455179, 12846986, 15228595, 28434268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	16797537		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	30152246	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Phosphate Diabetes	Phosphate Diabetes	BEFREE	29667913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	7756180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	22688354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21310527, 21999842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17200335, 18499164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18499164, 19857250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	29523900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	20520817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	BEFREE	16888648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	11570907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	11570907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28226265, 28539953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31078998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	30863411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	1673877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31845438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10487828, 31845438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	35986737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	29735986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	10048490, 23359680		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	23359680, 28007905		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	23359680		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	29735986		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	29735986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31356902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	24667781	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21878121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18512240, 34398824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28397067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26018507, 26550574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26018507, 26550574, 26823707, 39520970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	15338374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16889486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16889486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31101122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	29959188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18843024, 33096258, 37815895, 39520970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	LHGDN	16402389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29033830		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	1386525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

UCHL1 (ubiquitin C-terminal hydrolase L1)