Gene: PINK1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315355
rs74315355
PINK1 ; PINK1-AS
0.070 GeneticVariation BEFREE Parkinson's disease-associated PINK1 G309D mutation increases abnormal phosphorylation of Tau. 25899925

2015
dbSNP: rs74315355
rs74315355
PINK1 ; PINK1-AS
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
PINK1 ; PINK1-AS
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
PINK1 ; PINK1-AS
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
PINK1 ; PINK1-AS
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
PINK1 ; PINK1-AS
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
PINK1 ; PINK1-AS
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: rs45539432
rs45539432
PINK1 ; PINK1-AS
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: rs748343847
rs748343847
PINK1 ; MIR6084
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: rs74315359
rs74315359
PINK1 ; PINK1-AS
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: rs748343847
rs748343847
PINK1 ; MIR6084
0.020 GeneticVariation BEFREE A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance. 18704525

2008
dbSNP: rs45539432
rs45539432
PINK1 ; PINK1-AS
0.020 GeneticVariation BEFREE Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. 17219214

2007
dbSNP: rs3738136
rs3738136
PINK1 ; PINK1-AS
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: rs74315359
rs74315359
PINK1 ; PINK1-AS
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: rs3738136
rs3738136
PINK1 ; PINK1-AS
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: rs774647122
rs774647122
PINK1 ; PINK1-AS
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: rs45478900
rs45478900
PINK1 ; PINK1-AS
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: rs74315356
rs74315356
PINK1 ; PINK1-AS
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: rs730882053
rs730882053
PINK1 ; PINK1-AS
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: rs17852513
rs17852513
PINK1
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: rs1043424
rs1043424
PINK1 ; PINK1-AS
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
PINK1
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