PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
Disease: Homozygous variegate porphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342860
Disease: Homozygous variegate porphyria
Homozygous variegate porphyria 		0.110 AlteredExpression disease BEFREE Lymphocyte protoporphyrinogen oxidase activity was very low in the patient (0.4 nmol/mg protein/h) and half-normal (2.7 and 2.3 nmol/mg protein/h) in the parents, suggesting that the patient had homozygous variegate porphyria. 3319294 1987
CUI: C0342860
Disease: Homozygous variegate porphyria
Homozygous variegate porphyria 		0.110 CausalMutation disease CLINVAR