Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group 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
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 Biomarker group 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
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group 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
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 Biomarker group 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
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group 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
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group BEFREE Dystonia at onset was present in two patients with parkin gene mutations. 12397156 2002
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.070 GeneticVariation group 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