Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 GeneticVariation phenotype BEFREE Excluding PRKN (parkin) mutations, >90% of the presenting phenotypes have a complex or atypical presentation, with dystonia, abnormal cognition, pyramidal signs, neuropsychiatric disorders, abnormal imaging and abnormal eye movements being the most common features. 31800013 2020
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 Biomarker phenotype GENOMICS_ENGLAND Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 22956510 2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 Biomarker phenotype BEFREE We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. 20694531 2010
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 GeneticVariation phenotype BEFREE Herein, we investigated the frequency of GCH1 mutations in a series of 53 familial EOPD patients (21 with dystonia) and screened them for mutations in PRKN, PINK1, and DJ-1. 19735094 2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 GeneticVariation phenotype LHGDN Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. 18554280 2008
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 Biomarker phenotype 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
0.490 GeneticVariation phenotype LHGDN 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
0.490 GeneticVariation phenotype BEFREE We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests remarkable variability in regard to age of onset and phenotype in a single family. 12815654 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 GeneticVariation phenotype LHGDN How much phenotypic variation can be attributed to parkin genotype? 12891670 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 GeneticVariation phenotype BEFREE Dystonia at onset was present in two patients with parkin gene mutations. 12397156 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 GeneticVariation phenotype 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
0.490 Biomarker phenotype GENOMICS_ENGLAND Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.490 Biomarker phenotype HPO