Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. 16401616 2006
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. 16632486 2006
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. 16009891 2005
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Bioenergetic consequences of PINK1 mutations in Parkinson disease. 22043288 2011
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Analysis of PINK1 in Asian patients with familial parkinsonism. 16207217 2005
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 17030667 2006
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 24652937 2014
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT PINK1 mutations are associated with sporadic early-onset parkinsonism. 15349860 2004
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Novel PINK1 mutations in early-onset parkinsonism. 15349870 2004
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. 20798600 2010
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 15087508 2004
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT PINK1 mutations in sporadic early-onset Parkinson's disease. 16482571 2006
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 15970950 2005
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105 2009
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease CLINVAR
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT PINK1 (PARK6) associated Parkinson disease in Ireland. 15505171 2004
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease BEFREE Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD). 29166608 2017
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. 16966503 2006
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. 15596610 2004
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 16207731 2005
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 22956510 2012
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. 16257123 2006
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. 15955953 2005
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. 18286320 2008
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 GeneticVariation disease UNIPROT Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014