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 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 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 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 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 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 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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Mutations of the DJ-1 (PARK7) gene are linked to familial Parkinson's disease. 15784737 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Mutations in the DJ-1 gene cause autosomal recessive early onset PD in two European families. 14713311 2003
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE DJ-1 (PARK7) is a gene linked to autosomal recessive Parkinson disease (PD). 24899725 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Mutations in the DJ-1 gene have been implicated in the PARK7-linked autosomal recessive form of Parkinson's disease (PD). 15519239 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE We characterized the pathophenotypes of dopaminergic neuronal cells that were deficient in PINK1 or DJ-1, genes with mutations linked to familial PD. 21664494 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE DJ-1 - a causative agent of familial Parkinson's disease PARK7 - is responsible for inducing antioxidative reaction. 20202083 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Mutations in seven genes are robustly associated with autosomal dominant (SNCA, LRRK2, EIF4G1, VPS35) or recessive (parkin/PARK2, PINK1, DJ1/PARK7) Parkinson's disease (PD) or parkinsonism. 23462481 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Our aim was to examine the possibility of using DJ-1 (PARK7), as a novel therapeutic target for Parkinson's disease. 26024237 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease. 12446870 2003
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE However, the causes of the emotional symptom accompanying PARK7-associated and other forms of Parkinson's disease remain largely unexplored. 31504219 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE DJ-1 (also known as PARK7) has been identified as a causal gene for hereditary recessive Parkinson's disease (PD). 28993701 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Loss-of-function of DJ-1 protein is suggested to contribute to the onset of PD, but the causes of DJ-1 dysfunction remain insufficiently elucidated. 28446034 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Here, DJ-1 (PARK7) gained major attention when a conserved cysteine residue with a putative role in oxidative stress sensing/protection was linked to PD. 30011180 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 AlteredExpression disease BEFREE Heightened DJ-1 (Park7) expression is associated with a reduction in chemotherapeutic-induced cell death and poor prognosis in several cancers, whereas the loss of DJ-1 function is found in a subgroup of Parkinson disease associated with neuronal death. 21097510 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE DJ-1 was initially identified by us as a novel oncogene and has recently been found to be a causative gene for familial Parkinson's disease PARK7. 16781058 2006
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE The DJ-1 gene is a causative gene for familial PD (park7) and also an oncogene. 23766857 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE DJ-1/PARK7, a cancer- and Parkinson's disease (PD)-associated protein, protects cells from toxic stresses. 17015834 2006
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 Biomarker disease BEFREE Many mutations in genes encoding proteins such as Parkin, PTEN-induced putative kinase 1 (PINK1), protein deglycase DJ-1 (DJ-1 or PARK7), leucine-rich repeat kinase 2 (LRRK2), and α-synuclein have been linked to familial forms of Parkinson's disease (PD). 29700116 2018