| 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) |
| Similar Terms | |
| Downloads & Tools |
9 genes involed in the disease porphyria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.