Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin. 27534820

2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR PARKIN Inactivation Links Parkinson's Disease to Melanoma. 26683220

2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. 26188007

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma. 25877876

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Parkinson's Disease in Saudi Patients: A Genetic Study. 26274610

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants. 25907632

2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity. 24647965

2014
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China. 24831986

2014
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons. 23751051

2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR A molecular explanation for the recessive nature of parkin-linked Parkinson's disease. 23770917

2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation CLINVAR Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. 23818421

2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease. 23275044

2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation CLINVAR Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. 21996382

2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease. 22777964

2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation CLINVAR Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 22956510

2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Autoregulation of Parkin activity through its ubiquitin-like domain. 21694720

2011
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain. 21348451

2011
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. 20798600

2010
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria. 20604804

2010
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107

2010