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 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 Biomarker disease BEFREE PINK1 (PTEN-induced putative kinase 1) gene is the causal gene for recessive familial type 6 of Parkinson's disease (PARK6), which is an early-onset autosomal recessive inherited neurodegenerative disease. 29255601 2017
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 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 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 Biomarker disease BEFREE These results suggest that PINK1 exerts anti-apoptotic effect by inhibiting the opening of mPTP and that PARK6 mutant PINK1 loses its ability to prevent mPTP opening and cytochrome c release. 17707122 2007
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 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 Biomarker disease MGD Pink1-deficiency in mice impairs gait, olfaction and serotonergic innervation of the olfactory bulb. 22265660 2012
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 Biomarker disease GENOMICS_ENGLAND
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 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 CTD_human BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation. 24475098 2014
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 Biomarker disease MGD Possibly in line with the PARK6 syndrome but in contrast to sporadic PD, a reduced lifespan, dysfunction of brainstem and sympathetic nerves, visible aggregates of alpha-synuclein within Lewy bodies or nigrostriatal neurodegeneration were not present in aged PINK1-deficient mice. 19492057 2009
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 Biomarker disease MGD Potentiation of neurotoxicity in double-mutant mice with Pink1 ablation and A53T-SNCA overexpression. 25296918 2015
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
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.930 CausalMutation disease CLINVAR L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 chaperones is rapidly degraded in a proteasome-dependent manner. 18359116 2008