PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT DJ-1 associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes. 23847046 2013
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity. 23792957 2013
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Human DJ-1 and its homologs are novel glyoxalases. 22523093 2012
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105 2009
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6. 17846173 2007
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Analyzing the PARK7/DJ1 gene in 104 EOPD patients, we identified a third mutation, c.192G>C (p.E64D), associated with EOPD in a patient of Turkish ancestry and characterized the functional significance of this amino acid substitution. 15365989 2004
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation BEFREE Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). 15365989 2004
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. 14607841 2004
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. 15254937 2004
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 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
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. 12851414 2003
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 12446870 2003
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.810 GeneticVariation UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260 2003
dbSNP: rs74315353
rs74315353
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		C 0.810 CausalMutation CLINVAR
dbSNP: rs161802
rs161802
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C0038454
Disease:
Cerebrovascular accident 		T 0.800 GeneticVariation GWASDB Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
dbSNP: rs161802
rs161802
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C0038454
Disease:
Cerebrovascular accident 		0.800 GeneticVariation GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
dbSNP: rs28938172
rs28938172
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs35675666
rs35675666
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		G 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012