PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: Young onset Parkinson disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels. 27294386 2016
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. 27182553 2016
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings. 26855076 2016
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Exome sequencing in dementia with Lewy bodies. 26836416 2016
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10. 25591737 2015
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants. 25907632 2015
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004 2015
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		0.710 GeneticVariation BEFREE The compound heterozygous mutation c.951G>C (p.G284R) and c.924C>T (p.R275W) is the pathogenic factor in this EOPD Uyghur family. 24831986 2014
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 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
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2). 22555654 2012
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 19636047 2009
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972 2009
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. 19162522 2009
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR Distribution, type, and origin of Parkin mutations: review and case studies. 15390068 2004
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR RING finger 1 mutations in Parkin produce altered localization of the protein. 14519684 2003
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 CausalMutation CLINVAR How much phenotypic variation can be attributed to parkin genotype? 12891670 2003
dbSNP: rs34424986
rs34424986
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		A 0.710 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
dbSNP: rs751037529
rs751037529
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		0.020 GeneticVariation BEFREE Compound heterozygous mutations in PARK2 with point mutation of G403C and deletion mutation of exon 6 might contribute to the development of EOPD. 30702579 2019
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		0.020 GeneticVariation BEFREE We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). 27776828 2017
dbSNP: rs751037529
rs751037529
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		0.020 GeneticVariation BEFREE The compound heterozygous mutation c.951G>C (p.G284R) and c.924C>T (p.R275W) is the pathogenic factor in this EOPD Uyghur family. 24831986 2014
dbSNP: rs137853054
rs137853054
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		0.020 GeneticVariation BEFREE Compound heterozygous mutations (T240M and EX 5_6 del) in the PRKN gene were found to cause autosomal recessive EOPD in 4 members of a large white family. 16476817 2006
dbSNP: rs1189803871
rs1189803871
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		0.010 GeneticVariation BEFREE The compound heterozygous mutation c.951G>C (p.G284R) and c.924C>T (p.R275W) is the pathogenic factor in this EOPD Uyghur family. 24831986 2014
dbSNP: rs755588390
rs755588390
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C4275179
Disease:
Young onset Parkinson disease 		0.010 GeneticVariation BEFREE Compound heterozygous parkin mutations (EX 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family. 17353387 2007