Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156

1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156

1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker GENOMICS_ENGLAND Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156

1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker BEFREE Our findings indicate that loss of function of the Parkin protein results in the clinical phenotype of AR-JP and that subregions between introns 2 and 5 of the Parkin gene are mutational hot spots. 9851438

1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker BEFREE Identification of its mutation provides an important clue as to the role of the Parkin protein in degeneration of the substantia nigra in the brain of AR-JP patients. 9731209

1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE PARK2 appears to be an important locus for AR-JP in European patients. 9634531

1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. 9731209

1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Therapeutic 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene. 10534280

1999
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation 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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. 10939576

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker BEFREE The predicted structure of Parkin protein and its mutation provide important clues for studying the functional role of the Parkin protein in leading to selective degeneration of nigral neurons in the brains of AR-JP patients. 11128608

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Biomarker CTD_human Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. 10894217

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. 10888878

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE In addition, mutations in the parkin gene have been identified as the cause of autosomal recessive juvenile parkinsonism (AR-JP). 10983716

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-onset Parkinson's disease (at or before the age of 20 years). 10824074

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 CausalMutation CLINVAR Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 Therapeutic CTD_human Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. 10894217

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism. 10899410

2000