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
0.800 AlteredExpression BEFREE Differential expression of PARK2 splice isoforms in an in vitro model of dopaminergic-like neurons exposed to toxic insults mimicking Parkinson's disease. 28688199

2018

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Parkin (PARK2) is an E3 ubiquitin ligase that is commonly mutated in Familial Parkinson's Disease (PD). 28399880

2018

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Mutations in PARK2 are one of the causes of Parkinson's disease (PD). 27798970

2018

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Loss-of-function caused by mutations in the parkin gene (PARK2) lead to early-onset familial Parkinson's disease. 29040870

2018

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 Biomarker BEFREE The PARK2 gene encodes an ubiquitin E3 ligase that is involved in mitochondrial homeostasis and linked to Parkinson's disease.In this issue, Gupta et al. 28306509

2017

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Mutations in the Parkin gene (PARK2) have been linked to a recessive form of Parkinson's disease (PD) characterized by the loss of dopaminergic neurons in the substantia nigra. 28379402

2017

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Parkin gene mutation testing was performed in young onset PD (diagnosed <50 years old) to identify three groups: Parkin homozygous or compound heterozygote mutation carriers, Parkin single heterozygote mutation carriers, and non-carriers of Parkin mutations. 26626018

2017

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 Biomarker CTD_human Minocycline protects, rescues and prevents knockdown transgenic parkin Drosophila against paraquat/iron toxicity: Implications for autosomic recessive juvenile parkinsonism. 28284907

2017

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 Therapeutic RGD Thymoquinone exerts neuroprotective effect in animal model of Parkinson's disease. 28526446

2017

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Genomic instability in the PARK2 locus is associated with Parkinson's disease. 25833766

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Mutations in the gene encoding parkin, PARK2, result in both familial and sporadic forms of Parkinson's disease (PD) in conjunction with reductions in removal of damaged mitochondria. 26377470

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Mutations in PINK1 and parkin genes are a cause of familial PD. 26509433

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. 26188007

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 Biomarker BEFREE Parkinson's Disease (PD) related genes PINK1, a protein kinase [1], and Parkin, an E3 ubiquitin ligase [2], operate within the same pathway [3-5], which controls, via specific elimination of dysfunctional mitochondria, the quality of the organelle network [6]. 26517048

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 Biomarker BEFREE Whole genome expression profiling at various stages of differentiation confirmed the mitochondrial phenotype and identified pathways altered by PARK2 dysfunction that include PD-related genes. 25843045

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 Biomarker BEFREE These findings provide a molecular mechanism of how Parkin recruitment to the mitochondria and Parkin activation as an E3 ubiquitin ligase are regulated by PINK1 and explain the previously unknown mechanism of how Parkin mutations in the UBL domain cause PD pathogenesis. 26631732

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE PARK2 gene mutations were found also in some general Parkinson disease patients. 25907632

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE The single RING finger type E3 ubiquitin-protein ligase PARK2 is mutated in a Parkinson's disease (PD) variant and was found to interact with ATXN2, a protein where polyglutamine expansions cause Spinocerebellar ataxia type 2 (SCA2) or increase the risk for Levodopa-responsive PD and for the motor neuron disease Amyotrophic lateral sclerosis (ALS). 25790475

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE We generated PD-iPSCs from a sporadic early onset PD patient carrying a heterozygous deletion of exon 5 (Ex5del) in PARK2. 26797011

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients. 26016408

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Mutations in the E3 ubiquitin ligase Parkin have been linked to familial Parkinson's disease. 26387737

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Previously, we isolated a mutant form of the Parkin protein (Q311R and A371T) from a Parkinson's disease patient. 25865804

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 Biomarker BEFREE PARKIN Inactivation Links Parkinson's Disease to Melanoma. 26683220

2016

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.800 GeneticVariation BEFREE Genes which have been implicated in autosomal-recessive PD include PARK2 which codes for parkin, an E3 ubiquitin ligase that participates in a variety of cellular activities. 25399302

2016