porphyria Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (Human Disease Ontology, DOID_13268)
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Genes

9 genes involed in the disease porphyria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
CPOX coproporphyrinogen oxidase
FECH ferrochelatase
HFE hemochromatosis
HMBS hydroxymethylbilane synthase
PPOX protoporphyrinogen oxidase
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase