Erythropoietic Protoporphyria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. (Human Disease Ontology, DOID_13270)
External Link https://www.disgenet.org/browser/0/1/0/C0162568
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Genes

24 genes associated with the disease Erythropoietic Protoporphyria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ALAS1 5'-aminolevulinate synthase 1
ALAS2 5'-aminolevulinate synthase 2
AREG amphiregulin
BTC betacellulin
CD38 CD38 molecule
CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit
EREG epiregulin
FECH ferrochelatase
GDF15 growth differentiation factor 15
HAMP hepcidin antimicrobial peptide
HMBS hydroxymethylbilane synthase
HMOX1 heme oxygenase 1
POMC proopiomelanocortin
PPOX protoporphyrinogen oxidase
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TFRC transferrin receptor
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TXN thioredoxin
TXNRD1 thioredoxin reductase 1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase