Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in Parkin or PINK1 are the most common cause of recessively inherited parkinsonism. 23459931 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE These results underscore the relevance of the PINK1/Parkin-mediated mitochondrial quality control pathway in primary neurons and shed further light on the underlying mechanisms of the PINK1 and Parkin pathogenic mutations that predispose Parkinsonism in vivo. 23751051 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group CTD_human Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism. 23046578 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 21925922 2012
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Parkinsonism due to mutations in PINK1, parkin, and DJ-1 and oxidative stress and mitochondrial pathways. 22951446 2012
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group BEFREE In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features. 22166450 2012
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in DJ-1, PINK1 (PTEN-induced putative kinase 1) and parkin all cause recessive parkinsonism in humans, but the relationships between these genes are not clearly defined. 20940149 2011
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE The recessive Parkinsonism-linked genes PTEN-induced kinase 1 (PINK1) and Parkin maintain mitochondrial integrity by regulating diverse aspects of mitochondrial function, including membrane potential, calcium homeostasis, cristae structure, respiratory activity, and mtDNA integrity. 20131004 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group BEFREE We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. 20694531 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group BEFREE PINK1-linked parkinsonism is associated with Lewy body pathology. 20356854 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Loss-of-function mutations in PINK1 and Parkin cause parkinsonism in humans and mitochondrial dysfunction in model organisms. 20126261 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ-1, typically lead to early onset parkinsonism. 20421364 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE The PTEN-induced putative kinase 1 (PINK1) is a mitochondrially targeted serine-threonine kinase, which is linked to autosomal recessive familial parkinsonism. 20385539 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group BEFREE Our data indicate that olfactory dysfunction is common in PINK1 Parkinsonism and consists typically in defective odor identification and discrimination. 19890973 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. 19372294 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mutations in PTEN-induced kinase 1 (PINK1) are associated with familial parkinsonism and neuropsychiatric disorders. 19279012 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group BEFREE This review highlights the role of the mitochondrial kinase, PINK1, in protection against mitochondrial dysfunction and how this might relate to loss of substantia nigra neurons in recessive parkinsonism. 19703660 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group BEFREE Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease. 19815446 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 Biomarker group BEFREE This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. 19429112 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Three types of hereditary complex I dysfunction are dealt with: (i) homozygous mutations in the nuclear genes NDUFS1 and NDUFS4 of complex I, associated with mitochondrial encephalopathy; (ii) a recessive hereditary epileptic neurological disorder associated with enhanced proteolytic degradation of complex I; (iii) homoplasmic mutations in the ND5 and ND6 mitochondrial genes of the complex, coexistent with mutation in the nuclear PINK1 gene in familial Parkinsonism. 19210954 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE The presence of these mutations appears to have an impact on the development of the parkinsonism, which can also occur in the heterozygous PINK1 mutation state. 19904588 2009
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Familial Parkinsonism with digenic parkin and PINK1 mutations. 18546294 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group LHGDN [Case of a 30-year history of PARK6 --findings from functional imaging of the brain]. 19048950 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation. 18473170 2008
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.700 GeneticVariation group BEFREE Deficits in temporal processing might be considered as subclinical signs of alteration at least in PINK1-related parkinsonism. 18584234 2008