Disease: Variegate Porphyria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Variegate Porphyria
CUI: C0162532
Disease: Variegate Porphyria
0.710 GeneticVariation BEFREE Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. 10401000 1999
Variegate Porphyria
CUI: C0162532
Disease: Variegate Porphyria
0.710 CausalMutation CLINVAR