Porphyria Gene Set

Dataset DisGeNET 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)
External Link https://www.disgenet.org/browser/0/1/0/C1867968
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Genes

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

Symbol Name
AFP alpha-fetoprotein
ALAS1 5'-aminolevulinate synthase 1
ALAS2 5'-aminolevulinate synthase 2
BCL2 B-cell CLL/lymphoma 2
CD34 CD34 molecule
CD6 CD6 molecule
CEL carboxyl ester lipase
CPOX coproporphyrinogen oxidase
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
FECH ferrochelatase
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
GATA1 GATA binding protein 1 (globin transcription factor 1)
GLS glutaminase
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HAMP hepcidin antimicrobial peptide
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HMBS hydroxymethylbilane synthase
HPGDS hematopoietic prostaglandin D synthase
IL25 interleukin 25
IL33 interleukin 33
IL5 interleukin 5
IL6 interleukin 6
KL klotho
LGMN legumain
MMP3 matrix metallopeptidase 3
MYDGF myeloid-derived growth factor
OR10A4 olfactory receptor, family 10, subfamily A, member 4
PARP9 poly (ADP-ribose) polymerase family, member 9
POSTN periostin, osteoblast specific factor
PPOX protoporphyrinogen oxidase
PTEN phosphatase and tensin homolog
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SOAT1 sterol O-acyltransferase 1
TFR2 transferrin receptor 2
TFRC transferrin receptor
TNF tumor necrosis factor
TSLP thymic stromal lymphopoietin
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase