Disease: Huntington Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
0.030 GeneticVariation 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
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
0.030 GeneticVariation BEFREE In this group, the allelic variation on locus S18Y is responsible for 1.1% of the variance in the HD age-at-onset, and the rare Y allele is associated with younger-aged cases. 16369839 2006
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
0.030 GeneticVariation BEFREE We examined the association of HD with the I93M mutation and S18Y polymorphism in 138 HD patients and 136 control subjects, but we did not identify the I93M mutation. 12123845 2002