Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE To the best of the authors' knowledge, this is the first report in Korea of familial parkinsonism with the parkin gene mutation. 12728478

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation LHGDN Recessively inherited deletions/duplications and point mutations in the parkin gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the PINK1 gene are found to explain early-onset parkinsonism. 19087301

2008

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. 12548343

2002

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Using serial (18)F-dopa PET, the present longitudinal study addresses rates of progression of nigrostriatal dysfunction in both compound heterozygous (parkin-linked parkinsonism) and single heterozygous parkin gene carriers. 19845000

2009

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. 11920285

2002

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation LHGDN Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27. 12719539

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE In conclusion, we described a new PARKIN truncating mutation associated with an early onset parkinsonism, and the presence of foot dystonia as the initial symptom. 11684352

2001

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Autosomal recessive parkin (PARK2) gene-related parkinsonism may be phenotypically and pathophysiologically distinct from idiopathic Parkinson's disease (PD). 18759365

2008

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism. 10072423

1999

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism. 10899410

2000

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism. 23459986

2013

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India. 19734163

2010

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Clinicians should be aware that patients carrying a parkin gene mutation may present with dystonia-parkinsonism or very subtle parkinsonism with a markedly varied age of onset. 12815654

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes. 11163284

2001

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early-onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described. 17068781

2007

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Loss of function of the parkin gene (PRKN) is the predominant genetic cause of juvenile and early-onset parkinsonism in Japan, Europe, and the United States. 15642853

2005

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE The authors report an Italian family with pseudo-dominant inheritance of parkinsonism attributable to parkin gene mutations. 11552035

2001

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism. 15862897

2005

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Mutations in the PARKIN gene are the most common cause of hereditary parkinsonism. 15557340

2005

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Mutations in the parkin gene are a predominant cause of familial parkinsonism. 17687034

2007

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE In this study no one of our 85 patients of Serbian origin with young-onset (</= 45 years) dopa-responsive parkinsonism (YOP), previously proved negative for PARK1 and PARK2 mutations, had either spinocerebellar ataxia type 2 (SCA2) or SCA3 mutation. 12940846

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation LHGDN Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions. 15326242

2004

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Parkin gene mutations are reported to be a major cause of early-onset parkinsonism (age at onset < or = 45 years) in families with autosomal recessive inheritance and in isolated juvenile-onset parkinsonism (age at onset <20 years). 12764050

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. 12112109

2002

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation BEFREE Mutations of the parkin gene on chromosome 6 cause early-onset parkinsonism. 19922375

2009