UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease BEFREE Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. 29735986 2018
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Novel UCHL1 mutations reveal new insights into ubiquitin processing. 28007905 2017
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 23359680 2013
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 23359680 2013
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. 23359680 2013
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Intron-exon structure of ubiquitin c-terminal hydrolase-L1. 10048490 1998
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 		0.700 GeneticVariation disease UNIPROT Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants. 12705903 2003
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 		0.700 GeneticVariation disease UNIPROT The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. 12408865 2002
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 		0.700 Biomarker disease GENOMICS_ENGLAND Intron-exon structure of ubiquitin c-terminal hydrolase-L1. 10048490 1998
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 		0.700 GeneticVariation disease UNIPROT The ubiquitin pathway in Parkinson's disease. 9774100 1998
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 		0.700 SusceptibilityMutation disease CLINVAR
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 		0.700 Biomarker disease CTD_human
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.330 AlteredExpression disease BEFREE Higher levels of UCHL1 mRNA in EVs were found in the samples of patients with early-stage HGNECs than those with early-stage NSCLC and healthy donors' EVs. 31845438 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.330 Biomarker disease BEFREE Upregulation of Ubiquitin Carboxyl-Terminal Hydrolase L1 (UCHL1) Mediates the Reversal Effect of Verapamil on Chemo-Resistance to Adriamycin of Hepatocellular Carcinoma. 29627846 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.330 Biomarker disease BEFREE The upregulation of NAE1, UBE2M, and UCHL1 in HCC was associated with aggressive characteristics and poor OS and RFS in patients with HCC after hepatectomy. 29846044 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.330 AlteredExpression disease BEFREE UCH-L1 expression in NSCLC cell lines H838 and H157 was modulated by siRNA-knockdown, and the phenotypic changes were assessed by flow cytometry, haematoxylin & eosin (H&E) staining and poly (ADP-ribose) polymerase (PARP) cleavage. 21878121 2011
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.330 Biomarker disease BEFREE We identified 8 methylated genes (ARPC1B, DNAH9, FLRT2, G0S2, IRS2, PKP1, SPOCK1 and UCHL1) previously unreported in NSCLC. 19816938 2010
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.330 AlteredExpression disease BEFREE UCHL1 is expressed in all normal tissues and immortalized normal epithelial cell lines, but was low or silenced in 77% (10/13) of HCC cell lines, which is well correlated with its promoter methylation status. 18666234 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.330 AlteredExpression disease LHGDN UCHL1 is expressed in all normal tissues and immortalized normal epithelial cell lines, but was low or silenced in 77% (10/13) of HCC cell lines, which is well correlated with its promoter methylation status. 18666234 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.330 Biomarker disease CTD_human UCHL1 is expressed in all normal tissues and immortalized normal epithelial cell lines, but was low or silenced in 77% (10/13) of HCC cell lines, which is well correlated with its promoter methylation status. 18666234 2008
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.330 Biomarker disease CTD_human Proteomic analysis of secreted proteins of non-small cell lung cancer. 17094902 2006
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.300 Biomarker phenotype CTD_human Abnormal development of tracheal innervation in rats with experimental diaphragmatic hernia. 18958481 2008