porphyria Gene Set

Dataset GAD Gene-Disease Associations
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


2 genes associated with the disease porphyria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
HMBS hydroxymethylbilane synthase