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: rs778009684
rs778009684
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1306460
Disease:
Primary 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: 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: 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: rs774647122
rs774647122
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Generation of an induced pluripotent stem cell line (GIBHi003-A) from a Parkinson's disease patient with mutant PINK1 (p. I368N). 31778937 2019
dbSNP: rs34677717
rs34677717
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0007196
Disease:
Restrictive cardiomyopathy
0.010 GeneticVariation BEFREE The BAG3-Pro209Leu mutation is associated with early onset MFM and severe restrictive cardiomyopathy (RCM), often necessitating heart transplantation during childhood. 29338979 2018
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: 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: rs45478900
rs45478900
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Heterozygous PINK1 p.G411S mutations markedly increased Parkinson's disease risk (odds ratio = 2.92, P = 0.032); significance remained when supplementing with results from previous studies on 4437 additional subjects (odds ratio = 2.89, P = 0.027). 27807026 2017
dbSNP: rs74315355
rs74315355
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.010 GeneticVariation BEFREE In this study, we demonstrated that the G309D mutation impairs the neuroprotective function of PINK1 following proteasome inhibition, which may be related to the pathogenesis of PD. 28806787 2017
dbSNP: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE We applied the technology to recode a recessive loss-of-function mutation in PINK1 (W437X) in HeLa cells and showed functional rescue of PINK1/Parkin-mediated mitophagy, which is linked to the etiology of Parkinson's disease. 27907896 2017
dbSNP: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0242422
Disease:
Parkinsonian Disorders
0.010 GeneticVariation BEFREE From the clinical information available for the index case, the phenotype of mild, slowly-progressive Parkinsonism is consistent with previous reports of p.A217D disease and of PINK1 disease phenotype more generally. 28789629 2017
dbSNP: rs74315360
rs74315360
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C4275179
Disease:
Young onset Parkinson disease
0.010 GeneticVariation BEFREE Wider genetic analyses of EOPD in North Africa would be useful to estimate the prevalence of Parkinsonism caused by PINK1 p.A217D. 28789629 2017
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: 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: 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: 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: rs1426868527
rs1426868527
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0242422
Disease:
Parkinsonian Disorders
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: 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: rs730882053
rs730882053
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Future study, however, would be helpful to understand the functional mechanism how this premature PINK1 protein (p.Q267X) responds to cellular stress leading to the PD pathophysiology. 26282903 2015
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: rs17852513
rs17852513
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE These results indicate a novel pathway by which the P209A defect in the PINK1 kinase domain inhibits oxidative stress-induced HO-1 and SOD2 induction, which may accelerate the neurodegeneration in PD with PINK1 defect. 23261939 2013
dbSNP: rs3738136
rs3738136
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C4275179
Disease:
Young onset Parkinson disease
0.010 GeneticVariation BEFREE Unlike the Chinese population, the Ala340Thr variant did not show any association with PD in Indian population. 19889566 2010
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: 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: 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