rs147757966, PRKN

N. diseases: 2
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 CausalMutation CLINVAR Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin. 27534820 2016
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity. 26631732 2016
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity. 24647965 2014
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR A molecular explanation for the recessive nature of parkin-linked Parkinson's disease. 23770917 2013
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain. 21348451 2011
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Autoregulation of Parkin activity through its ubiquitin-like domain. 21694720 2011
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 19636047 2009
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. 16643317 2006
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 CausalMutation CLINVAR Pathogenic mutations inactivate parkin by distinct mechanisms. 15606901 2005
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.800 GeneticVariation UNIPROT
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 GeneticVariation BEFREE Interestingly, Parkin with missense mutations associated with Parkinson disease (PD) in the UBL domain, such as K27N, R33Q, and A46P, did not translocate to the mitochondria and induce E3 ligase activity by m-chlorophenyl hydrazone treatment, which correlated with the interaction between the R1 domain and the UBL domain with those PD mutations. 26631732 2016