PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
Disease: Homozygous variegate porphyria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936676
rs28936676
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0342860
Disease:
Homozygous variegate porphyria 		C 0.700 CausalMutation CLINVAR