PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 Biomarker disease CTD_human Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson's Disease from Mitochondrial Dysfunction and Cell Death. 27003823 2017
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 GeneticVariation disease UNIPROT Ubiquitin is phosphorylated by PINK1 to activate parkin. 24784582 2014
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 CausalMutation disease CLINVAR Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila. 23303188 2013
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 CausalMutation disease CLINVAR Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 22956510 2012
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 CausalMutation disease CLINVAR Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. 21996382 2012
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 Biomarker disease MGD Increased mitochondrial calcium sensitivity and abnormal expression of innate immunity genes precede dopaminergic defects in Pink1-deficient mice. 21249202 2011
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 GeneticVariation disease UNIPROT Bioenergetic consequences of PINK1 mutations in Parkinson disease. 22043288 2011
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 Biomarker disease CTD_human PARK6 mutant (G309D), (E417G) or (CΔ145) PINK1 failed to rescue mitochondrial dysfunction and inhibit oxidative stress in PINK1-deficient dopaminergic neurons. 21421046 2011
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 CausalMutation disease CLINVAR Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. 20558144 2010
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 Biomarker disease GENOMICS_ENGLAND Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. 18524835 2008
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 CausalMutation disease CLINVAR Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. 18785233 2008
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
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
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 CausalMutation disease CLINVAR PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. 17579517 2007
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		0.930 CausalMutation disease CLINVAR PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies. 17960343 2007