SCP2, sterol carrier protein 2, 6342

N. diseases: 50; N. variants: 1
Disease: Leukoencephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.400 Biomarker group CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.400 Biomarker group HPO