×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Exome sequencing in dementia with Lewy bodies.
26836416 2016
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
27182553 2016
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings.
26855076 2016
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.
27294386 2016
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
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
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
25815004 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.
25591737 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
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
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.
23531835 2013
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).
22555654 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
19801972 2009
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
19636047 2009
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.
19162522 2009
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
16049031 2005
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Distribution, type, and origin of Parkin mutations: review and case studies.
15390068 2004
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
RING finger 1 mutations in Parkin produce altered localization of the protein.
14519684 2003
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
How much phenotypic variation can be attributed to parkin genotype?
12891670 2003
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
10072423 1999