Disease: DYSTONIA 16 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DYSTONIA 16 (disorder)
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
0.800 CausalMutation CLINVAR PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
DYSTONIA 16 (disorder)
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
0.800 CausalMutation CLINVAR Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT. 26231208 2015
DYSTONIA 16 (disorder)
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
0.800 CausalMutation CLINVAR DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
DYSTONIA 16 (disorder)
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
0.800 CausalMutation CLINVAR DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008
DYSTONIA 16 (disorder)
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
0.800 GeneticVariation UNIPROT A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
DYSTONIA 16 (disorder)
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
0.800 GeneticVariation UNIPROT DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008