PNKP, polynucleotide kinase 3'-phosphatase, 11284

N. diseases: 163; N. variants: 17
Disease: Benign Hereditary Chorea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		0.010 Biomarker disease BEFREE PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 30956058 2019