PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease BEFREE While for patients with Parkinsonism, GCH1 mutation analysis should be performed after screening of genes like PARKIN, PARK7 (DJ-1) and PINK1. 27619486 2017
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease CTD_human BAG5 Interacts with DJ-1 and Inhibits the Neuroprotective Effects of DJ-1 to Combat Mitochondrial Oxidative Damage. 28348719 2017
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease BEFREE Several mutated genes have been found in familial PD patients, including SNCA (α-synuclein), PARK2 (parkin), PINK1, PARK7 (DJ-1), LRRK2 and ATP13A2 Many pathogenic mutations of PARK2, which encodes the ubiquitin E3 ligase parkin, result in loss of function, leading to accumulation of parkin substrates and consequently contributing to dopaminergic cell death. 27534820 2016
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease BEFREE PARK2, PINK1 and PARK7 (DJ-1), have been identified as responsible for the autosomal recessive form of early-onset Parkinson disease (EO-PD). 23986421 2013
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity. 23792957 2013
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT DJ-1 associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes. 23847046 2013
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease MGD Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease. 23019375 2012
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease BEFREE We screened 136 EOPD probands from a high-ascertainment regional and community-based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ-1), and exon 41 of LRRK2. 22956510 2012
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT Human DJ-1 and its homologs are novel glyoxalases. 22523093 2012
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105 2009
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease MGD Progressive behavioral deficits in DJ-1-deficient mice are associated with normal nigrostriatal function. 18187333 2008
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6. 17846173 2007
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease MGD Absence of dopaminergic neuronal degeneration and oxidative damage in aged DJ-1-deficient mice. 17535435 2007
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease MGD Age-dependent motor deficits and dopaminergic dysfunction in DJ-1 null mice. 15799973 2005
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease MGD Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress. 15784737 2005
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease MGD Nigrostriatal dopaminergic deficits and hypokinesia caused by inactivation of the familial Parkinsonism-linked gene DJ-1. 15721235 2005
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. 14607841 2004
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease BEFREE 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
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. 15254937 2004
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease 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
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease BEFREE Finally it was confirmed that PARK6 and PARK7 (DJ-1), despite being phenotypically similar and mapping to the same small chromosomal region of 1p36, are caused by mutations in separate genes. 14707326 2004
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease BEFREE To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 (parkin), and PARK7 (DJ-1). 15717024 2004
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260 2003
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 Biomarker disease GENOMICS_ENGLAND Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 12446870 2003
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		0.970 GeneticVariation disease UNIPROT L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. 12851414 2003