PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Acanthocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		0.030 GeneticVariation disease BEFREE It has not been investigated yet whether acanthocytosis in PKAN is associated with a specific subset of Pank2 mutations. 25915509 2015
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		0.030 GeneticVariation disease BEFREE Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. 21496574 2011
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		0.030 Biomarker disease BEFREE Acanthocytosis is also found in a smaller percentage of cases with pantothenate kinase-associated neurodegeneration (PKAN) and Huntington's disease-like 2 (HDL2). 16003113 2005