Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype BEFREE PRKRA is not an unusual cause of idiopathic dystonia. 29279192 2018
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype GENOMICS_ENGLAND PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype BEFREE Considering also that another dystonia, DYT16, involves a gene upstream of the eIF2α pathway, these results mechanistically link multiple forms of dystonia and put forth a new overall cellular mechanism for dystonia pathogenesis, impairment of eIF2α signaling, a pathway known for its roles in cellular stress responses and synaptic plasticity. 27939583 2016
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 GeneticVariation phenotype BEFREE A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT. 26231208 2015
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 GeneticVariation phenotype BEFREE Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. 25643588 2015
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype GENOMICS_ENGLAND Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia. 25914261 2015
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype GENOMICS_ENGLAND PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia. 25142429 2014
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype BEFREE The clinical presentation with young-onset, progressive generalized dystonia and mild parkinsonism resembled the phenotype of the original DYT16 cases. 25142429 2014
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype GENOMICS_ENGLAND PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia. 25142429 2014
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 GeneticVariation phenotype BEFREE Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18]. 23893446 2013
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype BEFREE DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. 22842711 2012
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype BEFREE Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS. 20066431 2010
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 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
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 GeneticVariation phenotype BEFREE Recently, a novel form of dystonia-parkinsonism (DYT16) has been found to be linked to mutations in the PRKRA gene, whose relation to basal ganglia disorders is yet unknown . 20590807 2010
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype BEFREE DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31. 19157930 2009
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 GeneticVariation phenotype LHGDN A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 GeneticVariation phenotype BEFREE We describe a mutation within the gene PRKRA that segregates with a novel, autosomal recessive, dystonia parkinsonism syndrome. 18243799 2008
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker phenotype CTD_human