CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
0.010 Biomarker disease BEFREE However, the percentage of COX-deficient fibers was significantly higher in 3 MFM patients. 24361111 2014