PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Hepatolenticular Degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.020 Biomarker disease BEFREE Recent genetic and molecular-biologic classifications distinguish (1) synucleinopathies (Parkinson's disease, dementia with Lewy bodies, Parkinson's disease-dementia, and multiple system atrophy); (2) tauopathies (progressive supranuclear palsy, corticobasal degeneration, FTLD-17; Guamian Parkinson-dementia; Pick's disease, and others); (3) polyglutamine disorders (Huntington's disease and related disorders); (4) pantothenate kinase-associated neurodegeneration; (5) Wilson's disease; and (6) other hereditary neurodegenerations without hitherto detected genetic or specific markers. 31214855 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.020 Biomarker disease BEFREE The most frequently identified MSDs were Pantothenate kinase-associated neurodegeneration (PKAN) with 11 papers describing Parkinsonism, Hereditary hemochromatosis (HH) (7 papers), and Wilson's disease (6 papers). 30384510 2018