Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE Mutations in the Parkin protein are known to be associated with protein dysfunction leading to PD. 31647998

2020

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE In rare cases PD is caused by mutations in the genes for PINK1 (PTEN induced kinase 1) or PRKN (parkin RBR E3 ubiquitin protein ligase), which impair the selective autophagic elimination of damaged mitochondria (mitophagy). 30945962

2020

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE Parkin can function as a neuroprotector that plays a crucial role in the regulation of mitophagy, and germline mutations in PARK2 are associated with Parkinson's disease (PD). 31285534

2020

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE Single-nucleotide polymorphisms (PARK2: Ser167Asn (G>A) and Val380Leu (G>C); PARK7: IVS4 + 46G>A and IVS4 + 30T>G) in PD-related genes were examined to elucidate its relationship with concentration of serum elements and clinical symptoms of PD. 31512170

2020

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE This cell line lacks the expression of all PARKIN isoforms and is valuable for elucidating the role of PARK2 mutations in PD. 31698191

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE We observed that amino acids in Parkin targeted by nonsynonymous T1R-risk mutations were also enriched for mutations implicated in PD (<i>P</i> = 1.5 × 10<sup>-4</sup>). 31308240

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE An early-onset form of Parkinson's disease is associated with mutations in the PINK1 kinase and PRKN ubiquitin ligase genes<sup>3</sup>. 31316206

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE Mutations of PINK1 and PRKN/PARK2 contribute to the risk of Parkinson disease. 30252570

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE Dysregulation of mitophagy, whereby damaged mitochondria are labeled for degradation by the mitochondrial kinase PINK1 and E3 ubiquitin ligase Parkin with phosphorylated ubiquitin chains (p-S65 ubiquitin), may contribute to neurodegeneration in Parkinson's disease. 31801089

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE Mitochondrial import efficiency was abnormally low in cells from patients with PINK1- and PARK2-linked Parkinson's disease and was restored by phosphomimetic ubiquitin in cells with residual Parkin activity. 31413265

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE Twelve studies that compared the DBS response in different genetic forms of PD and non-mutated cases were found; mutations in PRKN, LRRK2 and GBA were the most common PD-related mutations. 30121162

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 AlteredExpression BEFREE Here, we sought to elucidate the mechanisms by which stress decreases parkin protein levels using cultured neuronal cells and the PD-relevant stressor, L-DOPA. 31406131

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE Along with other novel genes and non-coding RNAs, a Parkinson's disease gene involved in dopamine regulation, PARK2, is associated with PTSD. 31594949

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE The diagnostic accuracy of HMR4H<sub>LEHR</sub> was highest in patients with LB disorders (PARK1, iPD, DLB, iRBD; 89% to 97%) and lowest in those with PARK2, PARK8, PSP and MSA (65% to 76%), with an optimal HMR4H<sub>LEHR</sub> cut-off value of 1.72 for discriminating most patients with LB disorders including iPD and 1.40 for discriminating those with aggressive LB spectrum phenotypes (DLB, PARK1 and iRBD). 30324423

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE This supports the idea that there is a distinct clinical profile of PRKN and PINK1-related Parkinson's disease. 31324919

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 AlteredExpression BEFREE Ring finger protein 146 (RNF146) is an E3 ubiquitin ligase whose activity prevents poly (ADP-ribose) polymerase 1 (PARP1)-dependent neurodegeneration in Parkinson's disease (PD). 30974833

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE The diagnosis of Parkinson's disease (PD) in patients carrying mutations in the Parkin gene is frequently delayed. 31255538

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 AlteredExpression BEFREE Of interest are three genes, eEF1A1, CASK, and PSMD6 that are linked to PARK2 activity in the cell and thereby form attractive candidate genes for understanding PD. 29852216

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE Strangely, only a single heterozygous mutation in PARK2 was found in a small minority of patients with PD, which has been reported quite rarely and is difficult to explain. 30702579

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE We showed synergistic alterations in lysosomal functions and mitochondrial biogenesis, likely associated with a mitochondrial genetic defect, with a consequent block of mitochondrial turnover and occurrence of premature cellular senescence in PARK2-PD fibroblasts, suggesting that these alterations represent potential mechanisms contributing to the loss of dopaminergic neurons. 31091796

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE All of the changes observed in the brains of these Drosophila models of PD, in which mitochondrial ligases MUL1 and PARKIN do not function, may explain the mechanisms of some neurological and behavioural symptoms of PD. 31138137

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE Here we found that a E3 ubiquitin ligase Peli1 is dramatically induced only in the substantia nigra (SN) of the human and mouse PD brains. 31142803

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE The Parkinson disease-associated proteins PINK1 and PRKN coordinate the ubiquitination of mitochondrial outer membrane proteins to tag them either for degradation or for autophagic clearance of the mitochondrion. 30806158

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 GeneticVariation BEFREE Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls. 31178336

2019

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.600 Biomarker BEFREE Parkin is an E3 ubiquitin ligase involved in Parkinson's disease (PD). 30074231

2019