Disease: DYSTONIA 16 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 GeneticVariation disease BEFREE A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis. 31246344 2019
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 CausalMutation disease CLINVAR PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia. 25914261 2015
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 CausalMutation disease CLINVAR Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT. 26231208 2015
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 CausalMutation disease CLINVAR DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 GeneticVariation disease 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: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 GermlineCausalMutation disease ORPHANET DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 GeneticVariation disease UNIPROT DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 GeneticVariation disease UNIPROT A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.720 CausalMutation disease CLINVAR DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008