Gene: PRKN ×
Source: ALL
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 Approximately 50% of all ARJP cases are attributed to mutations in the gene park2, coding for the protein parkin. 21348451 2011
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074 2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074 2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Autoregulation of Parkin activity through its ubiquitin-like domain. 21694720 2011
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2. 18973255 2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Complex relationship between Parkin mutations and Parkinson disease. 12116199 2002
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 Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2). 16517073 2006
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE Different mutations located along the parkin gene have been observed in different AR-JP affected families, possibly interfering with the normal function of parkin and the proteasome system. 12446971 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. 17095157 2006
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Distribution, type, and origin of Parkin mutations: review and case studies. 15390068 2004
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro. 16339143 2006
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. 11971093 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. 10888878 2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. 19205068 2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
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 GeneticVariation disease BEFREE Fortunately, our understanding of the pathogenesis of two types of recessive familial PDs--early-onset familial PD caused by dysfunction of the PTEN induced putative kinase 1 (PINK1) gene and autosomal recessive juvenile Parkinsonism (ARJP) caused by a mutation in the Parkin gene--has evolved and continues to expand. 20724841 2010
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 Biomarker disease BEFREE Fragile sites-associated genes, including FHIT (FRA3B), WWOX (FRA16D), DCC (FRA18B) and PARK2 (FRA6E) were frequently inactivated in HIV-NHL by interstitial deletions, and a significantly higher prevalence of FHIT alterations was observed in HIV-DLBCL compared to IC-DLBCL. 19832807 2010
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease. 24167364 2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 Biomarker disease MGD Genetic mouse models for Parkinson's disease display severe pathology in glial cell mitochondria. 21212098 2011
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma. 25877876 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease CLINVAR Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. 23818421 2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 CausalMutation disease CLINVAR Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. 16476817 2006