RPS27A, ribosomal protein S27a, 6233

N. diseases: 59; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE Drosophila Ubiquitin C-Terminal Hydrolase Knockdown Model of Parkinson's Disease. 29535397 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE Ubiquitin C-terminal Hydrolase-1 (UCHL1) is a deubiquitinating enzyme, which plays a key role in Parkinson's disease (PD). 28300150 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE Genetic studies have implicated the neuronal ubiquitin C-terminal hydrolase (UCH) protein UCH-L1 in Parkinson's disease (PD) pathogenesis. 22076440 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE The neuronal ubiquitin C-terminal hydrolase (UCH) UCH-L1 has been linked to Parkinson's disease (PD) and other neurodegenerative diseases. 21251915 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 GeneticVariation disease BEFREE Genetic studies have identified mutations in alpha-synuclein and ubiquitin C-terminal hydrolase as rare causes of autosomal dominant PD and mutations in parkin as a cause of autosomal recessive PD. 12067634 2002