Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
A 0.800 CausalMutation CLINVAR PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861

2016
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
A 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
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
A 0.800 CausalMutation CLINVAR DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429

2014
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
A 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
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
0.800 GeneticVariation UNIPROT A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150

2008
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
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
dbSNP: rs730880307
rs730880307
PRKRA
C 0.700 CausalMutation CLINVAR