Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		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
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.720 Biomarker disease GENOMICS_ENGLAND PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.720 CausalMutation disease CLINVAR PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.720 Biomarker disease GENOMICS_ENGLAND Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia. 25914261 2015
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		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
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.720 CausalMutation disease CLINVAR DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.720 Biomarker disease GENOMICS_ENGLAND DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		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
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		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
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.720 Biomarker disease GENOMICS_ENGLAND A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		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
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.720 GeneticVariation disease UNIPROT A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		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
Entrez Id: 101927027
Gene Symbol: CHROMR
CHROMR 		0.100 CausalMutation disease CLINVAR PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
Entrez Id: 101927027
Gene Symbol: CHROMR
CHROMR 		0.100 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
Entrez Id: 101927027
Gene Symbol: CHROMR
CHROMR 		0.100 CausalMutation disease CLINVAR DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
Entrez Id: 101927027
Gene Symbol: CHROMR
CHROMR 		0.100 CausalMutation disease CLINVAR DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.020 GeneticVariation disease BEFREE Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism. 27942883 2017
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.020 GeneticVariation disease BEFREE PLA2G6 was reported recently as the causative gene for PARK14-linked autosomal recessive early-onset dystonia-parkinsonism. 21368765 2011
Entrez Id: 55786
Gene Symbol: ZNF415
ZNF415 		0.010 GeneticVariation disease BEFREE A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis. 31246344 2019
Entrez Id: 5930
Gene Symbol: RBBP6
RBBP6 		0.010 GeneticVariation disease BEFREE A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis. 31246344 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.010 GeneticVariation disease BEFREE Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294 2017