SCP2, sterol carrier protein 2, 6342

N. diseases: 50; N. variants: 1
Disease: Dystonia Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 GeneticVariation group BEFREE Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006