SCP2, sterol carrier protein 2, 6342

N. diseases: 50; N. variants: 1
Disease: Refsum Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.010 Biomarker disease BEFREE A sterol-carrier protein-2 (SCP-2) knockout mouse model shares a similar clinical phenotype to Refsum's disease, but no mutations in SCP-2 have been described to-date in man. 11948235 2002