rs74315352, PARK7
N. diseases: 6
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | DJ-1 associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes. | 23847046 | 2013 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. | 23279440 | 2013 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity. | 23792957 | 2013 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Human DJ-1 and its homologs are novel glyoxalases. | 22523093 | 2012 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. | 19229105 | 2009 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6. | 17846173 | 2007 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. | 14607841 | 2004 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. | 15254937 | 2004 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). | 15365989 | 2004 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. | 14713311 | 2003 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | The role of pathogenic DJ-1 mutations in Parkinson's disease. | 12953260 | 2003 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. | 12446870 | 2003 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | GeneticVariation | UNIPROT | L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. | 12851414 | 2003 | |||||
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.800 | CausalMutation | CLINVAR |