Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker GENOMICS_ENGLAND PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861

2016

Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker GENOMICS_ENGLAND Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia. 25914261

2015

Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker 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

Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
CUI: C0013421
Disease: Dystonia
Dystonia
0.600 Biomarker 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