PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 42; N. variants: 45
Disease: Dystonia ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.490 Biomarker phenotype GENOMICS_ENGLAND Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 22956510 2012
CUI: C0013421
Disease: Dystonia
Dystonia 		0.490 Biomarker phenotype GENOMICS_ENGLAND Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998