PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Chorea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008489
Disease: Chorea
Chorea 		0.110 GeneticVariation phenotype BEFREE A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. 28821231 2017
CUI: C0008489
Disease: Chorea
Chorea 		0.110 Biomarker phenotype HPO