CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Disease: Acute intermittent porphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.010 Biomarker disease BEFREE This mechanism may provide a model for phenotype modulation by minor variations in the expression of the wild-type allele in the other three autosomal dominant porphyrias that exhibit incomplete penetrance: acute intermittent porphyria (AIP), variegata porphyria (VP) and hereditary coproporphyria (HC), which are caused by partial deficiencies of hydroxy-methyl bilane synthase (HMBS), protoporphyrinogen oxidase (PPOX) and coproporphyrinogen oxidase (CPO), respectively. 14669009 2004