PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1426868527
rs1426868527
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0392156
Disease:
Akathisia
0.010 GeneticVariation BEFREE The clinical phenotype comprised of asymmetrical onset, slowly progressive Parkinsonism with levodopa induced motor restlessness in a patient with the novel mutation (c.313 A > T, p. Ile105Phe) while subjects with c.293 G > A, p.Arg98Gln had early onset levodopa responsive symmetrical Parkinsonism. 27592010 2016
dbSNP: rs778009684
rs778009684
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Among all lung cancer-linked mutants that we tested, A46T Parkin failed to translocate onto mitochondria and could not recruit downstream mitophagic regulators, including optineurin (OPTN) and TFEB, whereas N254S and R275W Parkin displayed slower mitochondrial translocation than WT Parkin. 31285534 2020
dbSNP: rs34677717
rs34677717
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1861861
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.010 GeneticVariation BEFREE These findings indicate that altered autophagy plays a role in the pathogenesis and rapid progression of RCM in MFM caused by the BAG3-Pro209Leu mutation, which could have implications for future therapeutic strategies. 29338979 2018
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE To investigate the cytoprotective physiological function of PINK1, we used primary fibroblasts from three patients homozygous for G309D-PINK1 as well as SHEP neuroblastoma cells stably overexpressing GFP-tagged wild type (wt) PINK1. 20045449 2010
dbSNP: rs748343847
rs748343847
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C). 28768533 2017
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE To investigate the cytoprotective physiological function of PINK1, we used primary fibroblasts from three patients homozygous for G309D-PINK1 as well as SHEP neuroblastoma cells stably overexpressing GFP-tagged wild type (wt) PINK1. 20045449 2010
dbSNP: rs748343847
rs748343847
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C). 28768533 2017
dbSNP: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1611743
Disease:
Familial (FPAH)
0.010 GeneticVariation BEFREE Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. 29331938 2018
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1611743
Disease:
Familial (FPAH)
0.010 GeneticVariation BEFREE The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population. 15876334 2005
dbSNP: rs748343847
rs748343847
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C1611743
Disease:
Familial (FPAH)
0.010 GeneticVariation BEFREE The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance. 24313877 2014
dbSNP: rs371854396
rs371854396
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.700 GeneticVariation UNIPROT
dbSNP: rs17414302
rs17414302
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0021704
Disease:
Intelligence
A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs778009684
rs778009684
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Among all lung cancer-linked mutants that we tested, A46T Parkin failed to translocate onto mitochondria and could not recruit downstream mitophagic regulators, including optineurin (OPTN) and TFEB, whereas N254S and R275W Parkin displayed slower mitochondrial translocation than WT Parkin. 31285534 2020
dbSNP: rs1426868527
rs1426868527
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0700075
Disease:
Motor restlessness
0.010 GeneticVariation BEFREE The clinical phenotype comprised of asymmetrical onset, slowly progressive Parkinsonism with levodopa induced motor restlessness in a patient with the novel mutation (c.313 A > T, p. Ile105Phe) while subjects with c.293 G > A, p.Arg98Gln had early onset levodopa responsive symmetrical Parkinsonism. 27592010 2016
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE To investigate the cytoprotective physiological function of PINK1, we used primary fibroblasts from three patients homozygous for G309D-PINK1 as well as SHEP neuroblastoma cells stably overexpressing GFP-tagged wild type (wt) PINK1. 20045449 2010
dbSNP: rs748343847
rs748343847
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C). 28768533 2017
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE Moreover, we find that the ability of PINK1 to promote TRAP1 phosphorylation and cell survival is impaired by PD-linked PINK1 G309D, L347P, and W437X mutations. 17579517 2007
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE Finally, mitochondrial fragmentation induced by expression of αS is rescued by coexpression of PINK1, parkin or DJ-1 but not the PD-associated mutations PINK1 G309D and parkin Δ1-79 or by DJ-1 C106A. 20842103 2010
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE Here, we show that an alternative strategy, a neo-substrate approach involving the ATP analog kinetin triphosphate (KTP), can be used to increase the activity of both PD-related mutant PINK1(G309D) and PINK1(WT). 23953109 2013
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE In contrast, overexpression of PD-linked G309D, A339T, and E231G PINK1 mutations upregulates TH and DA levels in dopaminergic neurons and increases their vulnerability to oxidative stress. 24374372 2014
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE A G309D mutation in the PINK1 gene in a consanguineous Spanish kindred with seven siblings, three of whom are clinically affected, has recently been shown to be a cause of the PARK6 form of autosomal-recessive Parkinson's syndrome. 15785866 2005
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population. 15876334 2005
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.070 GeneticVariation BEFREE Parkinson's disease-associated PINK1 G309D mutation increases abnormal phosphorylation of Tau. 25899925 2015
dbSNP: rs3738136
rs3738136
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE Our results yielded significant evidence for disease association between PINK1 A340T and PD with later onset (OR 1.55, 95% CI 1.04-2.32, p=0.0393), thus suggesting that PINK1 A340T variant may contribute to the risk for late-onset PD in Chinese. 17084972 2006
dbSNP: rs3738136
rs3738136
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE We tested the hypothesis that three common coding variations (Leu63Leu, Ala340Thr and Asn521Thr) could increase the risk of PD. 15542245 2004