Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Since the discovery of the Parkin gene in the late 1990s, researchers in many countries have begun extensive research on this gene and found that in addition to AR-JP, the Parkin gene is associated with many diseases, including type 2 diabetes, leprosy, Alzheimer's, autism, and cancer. 31753025 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Meanwhile, contrast media-induced mitophagy was abolished when silencing PINK1 or PARK2 (Parkin), indicating a dominant role of the PINK1-Parkin pathway in mitophagy. 31229841 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Mutations in the E3 ubiquitin ligase parkin (PARK2, also known as PRKN) and the protein kinase PINK1 (also known as PARK6) are linked to autosomal-recessive juvenile parkinsonism (AR-JP)<sup>1,2</sup>; at the cellular level, these mutations cause defects in mitophagy, the process that organizes the destruction of damaged mitochondria<sup>3,4</sup>. 29995846 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Finally, we explored the role of PINK1/Parkin signaling in albumin-induced mitophagy by inhibiting mitophagy by knockdown of PARK2 (Parkin) level. 29494565 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Parkin, an E3 ubiquitin ligase, was first identified as a gene implicated in autosomal recessive juvenile Parkinsonism, but several evidences indicate that Parkin is a tumor suppressor gene, involved in a variety of cancers. 29349575 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Mutations in the parkin gene (PRKN) are the most common cause of autosomal-recessive juvenile Parkinson's disease (PD). 29501959 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE The visualization of the PARK2 signaling complex represents a novel marker for this critical step in mitophagy and can be used to monitor mitophagy progression in PARK2 mutants and to uncover additional upstream factors required for PARK2-mediated mitophagy signaling. 27846363 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Loss of function mutations in the gene PARK2, which encodes the protein parkin, cause autosomal recessive juvenile parkinsonism, a neurodegenerative disease characterized by degeneration of the dopaminergic neurons localized in the substantia nigra pars compacta. 28335015 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Parkin is an E3 ubiquitin ligase whose mutations cause autosomal recessive juvenile Parkinson's disease (PD). 28254618 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD). 29166608 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal recessive Juvenile Parkinsonism (AR-JP) is a chronic, progressive neurodegenerative disorder caused by mutation in the PARKIN gene, and invariably associated with dopaminergic (DAergic) neuronal loss and brain iron accumulation. 28284907 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal-recessive juvenile Parkinsonism (AR-JP) is caused by mutations in a number of PARK genes, in particular the genes encoding the E3 ubiquitin ligase Parkin (PARK2, also known as PRKN) and its upstream protein kinase PINK1 (also known as PARK6). 29160309 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin. 27534820 2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE It also revealed a 0.13-Mb deletion at 6q26 located in PARK2 gene, and the mutation of the gene is known to be related to autosomal recessive juvenile Parkinson disease.The parents chose termination of pregnancy (TOP). 27828868 2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. 27206984 2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE We attempted to discover the putative causal variant in an Indian family with autosomal-recessive juvenile Parkinsonism (ARJP), tested negative for mutations in PARK2, PINK1 and DJ1. 26864383 2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity. 26631732 2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE The homozygous variant, c.850G>C (p.G284R), in the parkin gene is possibly responsible for AR-JP in this pedigree. 27177722 2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR PARKIN Inactivation Links Parkinson's Disease to Melanoma. 26683220 2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. 26188007 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Mitochondrial alterations by PARKIN in dopaminergic neurons using PARK2 patient-specific and PARK2 knockout isogenic iPSC lines. 25843045 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Therapeutic disease CTD_human A recurrent mutation in PARK2 is associated with familial lung cancer. 25640678 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE The phosphoUb binding site on PARKIN comprises a conserved phosphate pocket and harbours residues mutated in patients with AR-JP. 26161729 2015