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: rs573931674
rs573931674
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset
0.710 GeneticVariation BEFREE Despite mitochondrial expression, PARK6 mutant (E240K), (H271Q), (G309D), (L347P), (E417G) and C-terminal truncated (CDelta145) PINK1 failed to inhibit MG132-induced cytochrome c release and caspase-3 activation. 17707122 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 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: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.030 GeneticVariation BEFREE In the present study we analysed fibroblasts from a patient carrying the homozygous mutation p.W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism. 18524835 2008
dbSNP: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.030 GeneticVariation BEFREE In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized. 18473170 2008
dbSNP: rs74315356
rs74315356
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0242422
Disease:
Parkinsonian Disorders
0.030 GeneticVariation BEFREE PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. 16700027 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 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
dbSNP: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.020 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: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C4275179
Disease:
Young onset Parkinson disease
0.020 GeneticVariation BEFREE Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study. 25226871 2014
dbSNP: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. 17219214 2007
dbSNP: rs45539432
rs45539432
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C4275179
Disease:
Young onset Parkinson disease
0.020 GeneticVariation BEFREE The index patient of family W carried a homozygous nonsense mutation (c.1366C>T; p.Q456X) and presented with a phenotype closely resembling idiopathic PD but with an onset at 39 years of age. 16769864 2006
dbSNP: rs74315359
rs74315359
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE Thr-313 was the primary phosphorylation site, a residue mutated to a non-phosphorylatable form (T313M) in a frequent variant of PD. 22238344 2012
dbSNP: rs74315359
rs74315359
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE However, the heterozygous T313M mutation does not act as a PD susceptibility factor, which is in contrast to several reports of mutations affecting only 1 PINK1 allele discovered in sporadic PD. 17030667 2006
dbSNP: rs748343847
rs748343847
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0030567
Disease:
Parkinson Disease
0.020 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: rs748343847
rs748343847
Entrez Id: 65018;102464833
Gene Symbol: PINK1;MIR6084
PINK1;MIR6084
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance. 18704525 2008
dbSNP: rs1043424
rs1043424
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
PINK1;PINK1-AS
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE We tested the hypothesis that three common coding variations (Leu63Leu, Ala340Thr and Asn521Thr) could increase the risk of PD. 15542245 2004
dbSNP: rs138050841
rs138050841
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE In a 51-year-old PD patient with a family history of PD, the authors identified a novel heterozygous mutation (R147H) in exon 2 of the PINK1 gene. 15505171 2004
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