SCP2, sterol carrier protein 2, 6342

N. diseases: 50; N. variants: 1
Disease: Dystonia, Paroxysmal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006