Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group CTD_human Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells. 26558463 2016
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Mutations in the PARK2 and PARK6 genes, coding for the cytosolic E3 ubiquitin protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1 [phosphatase and tensin homologue (PTEN)-induced putative kinase 1], lead to clinically similar early-onset Parkinsonian syndromes. 25849933 2016
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE We expanded the phenotypic profile of PINK1-related parkinsonism, including psychiatric and cognitive features as part of clinical presentation. 25164310 2015
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Loss-of-function mutation in PINK1 is known for causing autosomal recessive early onset Parkinsonism accounting approximately 6.5% of PD cases. 26282903 2015
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. 25643588 2015
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE The foot dystonia and gait disorders seen at disease onset in affected members of our family, which were accompanied by parkinsonism had a similar clinical presentation to what has been described in previous reports of PINK1 mutation carriers. 25226871 2015
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Mutations in Parkin or PINK1 are the most common cause of recessively inherited parkinsonism. 23459931 2014
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group CTD_human Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease. 24441527 2014
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group CTD_human Downregulation of Pink1 influences mitochondrial fusion-fission machinery and sensitizes to neurotoxins in dopaminergic cells. 24792327 2014
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 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 2014
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE PINK1 (PTEN induced putative kinase 1) and PARKIN (also known as PARK2) have been identified as the causal genes responsible for hereditary recessive early-onset Parkinsonism. 24784582 2014
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE PINK1 and Parkin, the products of two genes responsible for autosomal recessive Parkinsonian syndromes with early onset, act as a quality control system on the outer mitochondrial membrane to preserve mitochondrial integrity. 23206589 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE Mutations in seven genes are robustly associated with autosomal dominant (SNCA, LRRK2, EIF4G1, VPS35) or recessive (parkin/PARK2, PINK1, DJ1/PARK7) Parkinson's disease (PD) or parkinsonism. 23462481 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 GeneticVariation group BEFREE Parkinsonism due to mutations in PINK1, parkin, and DJ-1 and oxidative stress and mitochondrial pathways. 22951446 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 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
0.500 Biomarker group BEFREE Recent evidence from studies on the genetic forms of parkinsonism with particular stress on DJ-1, parkin, and PINK-1 also suggest the involvement of mitochondria and oxidative stress. 23064436 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 Biomarker group BEFREE PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics. 23063710 2013
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 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
0.500 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
0.500 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
0.500 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 2011
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 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
0.500 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
0.500 Biomarker group BEFREE PINK1-linked parkinsonism is associated with Lewy body pathology. 20356854 2010
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.500 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