rs121917767, UCHL1

N. diseases: 6
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
0.800 GeneticVariation UNIPROT Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants. 12705903 2003
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
0.800 GeneticVariation UNIPROT The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. 12408865 2002
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
0.800 GeneticVariation UNIPROT The ubiquitin pathway in Parkinson's disease. 9774100 1998
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
CUI: C3150899
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
0.800 SusceptibilityMutation CLINVAR