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 CLINVAR
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 Biomarker disease GENOMICS_ENGLAND
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 are associated with sporadic early-onset parkinsonism. 15349860 2004
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 Biomarker disease GENOMICS_ENGLAND Novel PINK1 mutations in early-onset parkinsonism. 15349870 2004
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 CausalMutation disease CLINVAR Novel PINK1 mutations in early-onset parkinsonism. 15349870 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 PINK1 (PARK6) associated Parkinson disease in Ireland. 15505171 2004
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 CausalMutation disease CLINVAR Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. 15824318 2005
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 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 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 Analysis of PINK1 in Asian patients with familial parkinsonism. 16207217 2005
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 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 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 PINK1 mutations in sporadic early-onset Parkinson's disease. 16482571 2006
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 CausalMutation disease CLINVAR PINK1 mutations in sporadic early-onset Parkinson's disease. 16482571 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 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 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 CausalMutation disease CLINVAR Novel features in a patient homozygous for the L347P mutation in the PINK1 gene. 17055324 2007
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 Biomarker disease MGD Impaired dopamine release and synaptic plasticity in the striatum of PINK1-deficient mice. 17563363 2007
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 CausalMutation disease CLINVAR PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. 17579517 2007