UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE The identification of mutations in six genes responsible for Mendelian forms of PD; alpha-synuclein (SNCA), parkin (PRKN), ubiquitin C-terminal hydrolase L1 (UCH-L1), oncogene DJ-1, PTEN-induced putative kinase 1 (PINK1), and most recently leucine-rich repeat kinase 2 (LRRK2), has confirmed the role of genetics in familial forms of the disease. 16796586 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE Taken together, these results suggest that further studies of altered UCH-L1 hydrolase function may provide new insights into a possible common pathogenic mechanism between familial and sporadic Parkinson's disease. 12705903 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE Among them considerable interest has been placed on the role of molecules associated with familial parkinsonism (Parkin, UCHL-1). 12846986 2003