PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. 19205068 2009
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. 17095157 2006
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons. 23751051 2013
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. 20798600 2010
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004 2015
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. 26188007 2015
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 19636047 2009
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Parkin mutations are frequent in patients with isolated early-onset parkinsonism. 12764050 2003
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria. 20604804 2010
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease. 22777964 2012
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 16049031 2005
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Distribution, type, and origin of Parkin mutations: review and case studies. 15390068 2004
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin. 27534820 2016
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. 16476817 2006
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107 2010
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma. 25877876 2015
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2. 18973255 2009
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236 2003
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. 27206984 2016
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. 20558392 2010
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease. 24167364 2013
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 15970950 2005
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity. 26631732 2016
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Pathogenic mutations inactivate parkin by distinct mechanisms. 15606901 2005
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation disease CLINVAR Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity. 24647965 2014