rs191486604, PRKN

N. diseases: 1
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
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
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation CLINVAR Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. 23818421 2013
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
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
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation CLINVAR Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. 21996382 2012
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. 20798600 2010
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107 2010
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria. 20604804 2010
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation CLINVAR p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria. 20604804 2010
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation CLINVAR Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. 18486522 2009
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro. 16339143 2006
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation CLINVAR Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism. 15090472 2004