Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene. 10534280 1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene. 12397156 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal-recessive juvenile parkinsonism (AR-JP) is caused by mutations in the parkin gene. 12846978 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal-recessive juvenile Parkinsonism (ARJP) is caused by mutations in the PARK2 gene coding for parkin and constitutes the most common familial form of PD. 15249681 2004
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Autosomal recessive juvenile parkinsonism (AR-JP, PARK2) is characterized by an early onset parkinsonism, often presenting with dystonia as an early feature. 15635662 2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal recessive Juvenile Parkinsonism (AR-JP) is a chronic, progressive neurodegenerative disorder caused by mutation in the PARKIN gene, and invariably associated with dopaminergic (DAergic) neuronal loss and brain iron accumulation. 28284907 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE Autosomal-recessive juvenile Parkinsonism (AR-JP) is caused by mutations in a number of PARK genes, in particular the genes encoding the E3 ubiquitin ligase Parkin (PARK2, also known as PRKN) and its upstream protein kinase PINK1 (also known as PARK6). 29160309 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Parkin protein was absent in all regions of the brains of patients with AR-JP. 10319893 1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Parkin gene causing benign autosomal recessive juvenile parkinsonism. 11402119 2001
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE PARK2 (PARKIN) is an E3 ubiquitin ligase involved in multiple signaling pathways and cellular processes. 24297497 2014
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE PARK2 appears to be an important locus for AR-JP in European patients. 9634531 1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR A molecular explanation for the recessive nature of parkin-linked Parkinson's disease. 23770917 2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism. 10899410 2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease UNIPROT A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. 11163284 2001
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Therapeutic disease CTD_human A recurrent mutation in PARK2 is associated with familial lung cancer. 25640678 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease CTD_human A recurrent mutation in PARK2 is associated with familial lung cancer. 25640678 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Therapeutic disease CTD_human A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423 1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease CTD_human A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423 1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423 1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease UNIPROT A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423 1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease CLINVAR A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423 1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 Biomarker disease BEFREE Although most PD cases are sporadic, several loci have been involved in the disease. parkin (PARK) is causative of autosomal recessive juvenile Parkinsonism (ARJP) and encodes an E3 ubiquitin ligase associated with proteasomal degradation. 22562816 2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 GeneticVariation disease BEFREE An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. 11009195 2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
1.000 CausalMutation disease CLINVAR Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. 18211709 2008