UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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