PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 42; N. variants: 45
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. 23818421 2013
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons. 23751051 2013
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. 21996382 2012
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria. 20604804 2010
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107 2010
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. 20798600 2010
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria. 20604804 2010
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. 18486522 2009
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro. 16339143 2006
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 CausalMutation CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
dbSNP: rs191486604
rs191486604
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		T 0.800 GeneticVariation CLINVAR Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism. 15090472 2004