Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 Biomarker disease BEFREE Areas covered: UCH-L1 is implicated in both familial and sporadic Parkinson disease and other chronic neurodegenerative diseases. 28434268 2017
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 GeneticVariation disease BEFREE Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population. 21315600 2011
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 GeneticVariation disease BEFREE We propose that aberrant interactions of UCH-L1 variants with CMA machinery, at least partly, underlie the pathogenesis of I93M UCH-L1-associated PD, and possibly of sporadic PD. 18635949 2008
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 GeneticVariation disease BEFREE We conclude that the S18Y variant of UCH-L1 confers a novel antioxidant function that is not present in the WT form and that this function may underlie the protective effects of this variant in certain PD populations. 18411255 2008
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 GeneticVariation disease BEFREE A protective effect of a UCH-L1 variant, S18Y, was suggested since the common variant was found to be inversely associated with sporadic Parkinson's disease (PD). 17287139 2007
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 GeneticVariation disease BEFREE Since a substitution of serine by tyrosine at codon 18, exon 3 (S18Y polymorphism) of the UCH-L1 gene exhibits a protective effect against the development of degenerative disease such as sporadic Parkinson's disease (PD) in several different ethnic groups, we hypothesized that UCH-L1 gene S18Y polymorphism may have that same effect on the pathologic process of AD. 16626667 2006
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 GeneticVariation disease BEFREE Based on the current evidence, the UCHL-1 gene does not exhibit a protective effect in PD. 16450370 2006
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 Biomarker disease BEFREE Taken together, these results suggest that further studies of altered UCH-L1 hydrolase function may provide new insights into a possible common pathogenic mechanism between familial and sporadic Parkinson's disease. 12705903 2003
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.090 GeneticVariation disease BEFREE A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population. 11535241 2001