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: rs35675666
rs35675666
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		G 0.800 GeneticVariation GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.800 GeneticVariation UNIPROT Human DJ-1 and its homologs are novel glyoxalases. 22523093 2012
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.800 GeneticVariation UNIPROT Human DJ-1 and its homologs are novel glyoxalases. 22523093 2012
dbSNP: rs35675666
rs35675666
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C0009324
Disease:
Ulcerative Colitis 		G 0.800 GeneticVariation GWASCAT Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs35675666
rs35675666
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C0009324
Disease:
Ulcerative Colitis 		G 0.800 GeneticVariation GWASDB Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.800 GeneticVariation UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260 2003
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.800 GeneticVariation UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260 2003
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
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
dbSNP: rs28938172
rs28938172
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs74315351
rs74315351
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		A 0.800 CausalMutation CLINVAR