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 		C 0.810 CausalMutation CLINVAR
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
dbSNP: rs74315352
rs74315352
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137853051
rs137853051
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853833
Disease:
Parkinson Disease 6, Autosomal Recessive Early-Onset 		T 0.700 CausalMutation CLINVAR
dbSNP: rs781600849
rs781600849
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		GT 0.700 CausalMutation CLINVAR
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: 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 Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 12446870 2003
dbSNP: rs774005786
rs774005786
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 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 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 L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. 12851414 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: rs774005786
rs774005786
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 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 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 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 The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260 2003
dbSNP: rs774005786
rs774005786
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 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 		0.810 GeneticVariation UNIPROT Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. 14607841 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: rs774005786
rs774005786
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C1853445
Disease:
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.700 GeneticVariation UNIPROT Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. 14607841 2004
dbSNP: rs28938172
rs28938172
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
CUI: C0030567
Disease:
Parkinson Disease 		0.100 GeneticVariation BEFREE Our studies revealed that the Parkinson's disease-linked L166P mutation impaired the intrinsic folding propensity of DJ-1 protein, resulting in a spontaneously unfolded structure that was incapable of forming a homodimer with itself or a heterodimer with wild-type DJ-1. 14665635 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: 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