UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Disease: Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 GeneticVariation disease BEFREE UCHL-1 S18Y polymorphism is a modifier of HD with a modest regulatory role in the age at disease onset, suggesting that UCHL-1 may be involved in HD pathogenesis. 19683447 2009
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 GeneticVariation disease LHGDN The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. 16369839 2006
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 GeneticVariation disease BEFREE The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. 16369839 2006
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE We conclude that the UCH-L1 gene may be a genetic factor that influences the variability in age-at-onset of HD. 12123845 2002