PNKP, polynucleotide kinase 3'-phosphatase, 11284

N. diseases: 163; N. variants: 17
Disease: Progressive chorea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699734
Disease: Progressive chorea
Progressive chorea 		0.010 Biomarker disease BEFREE This case highlights the phenotypic variability of PNKP associated disorders, showing that an early onset apparently non progressive chorea can be the presenting symptoms of this rare condition. 30956058 2019