Hemochromatosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. (Human Disease Ontology, DOID_2352)
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Genes

98 genes associated with the Hemochromatosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ACO1 aconitase 1, soluble
ADAM12 ADAM metallopeptidase domain 12
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALAS2 5'-aminolevulinate synthase 2
APOE apolipoprotein E
B2M beta-2-microglobulin
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BCO1 beta-carotene oxygenase 1
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMP6 bone morphogenetic protein 6
BTBD9 BTB (POZ) domain containing 9
CALR calreticulin
CCL2 chemokine (C-C motif) ligand 2
CCR2 chemokine (C-C motif) receptor 2
CD163 CD163 molecule
CP ceruloplasmin (ferroxidase)
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYBRD1 cytochrome b reductase 1
DHCR7 7-dehydrocholesterol reductase
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
EPAS1 endothelial PAS domain protein 1
EXOC6 exocyst complex component 6
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FTH1 ferritin, heavy polypeptide 1
FTL ferritin, light polypeptide
FURIN furin (paired basic amino acid cleaving enzyme)
FUT2 fucosyltransferase 2 (secretor status included)
FXN frataxin
GAST gastrin
GC group-specific component (vitamin D binding protein)
GDF15 growth differentiation factor 15
GDF2 growth differentiation factor 2
GSTP1 glutathione S-transferase pi 1
HAMP hepcidin antimicrobial peptide
HBB hemoglobin, beta
HEPHL1 hephaestin-like 1
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMOX1 heme oxygenase 1
HMOX2 heme oxygenase 2
HP haptoglobin
HPX hemopexin
HRES1 HTLV-1 related endogenous sequence
IL10 interleukin 10
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL6 interleukin 6
IL6R interleukin 6 receptor
IREB2 iron-responsive element binding protein 2
JAK2 Janus kinase 2
KRT18 keratin 18, type I
KRT8 keratin 8, type II
LCN2 lipocalin 2
MCOLN1 mucolipin 1
MLH1 mutL homolog 1
MON1A MON1 secretory trafficking family member A
MPO myeloperoxidase
MSH2 mutS homolog 2
MT-TL2 tRNA
NEO1 neogenin 1
NOD2 nucleotide-binding oligomerization domain containing 2
OGG1 8-oxoguanine DNA glycosylase
PCSK7 proprotein convertase subtilisin/kexin type 7
PCSK9 proprotein convertase subtilisin/kexin type 9
PGRMC1 progesterone receptor membrane component 1
PGRMC2 progesterone receptor membrane component 2
PICALM phosphatidylinositol binding clathrin assembly protein
PNPLA3 patatin-like phospholipase domain containing 3
PON1 paraoxonase 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SMAD1 SMAD family member 1
SMAD4 SMAD family member 4
SMAD5 SMAD family member 5
SOD2 superoxide dismutase 2, mitochondrial
STAT5B signal transducer and activator of transcription 5B
STEAP3 STEAP family member 3, metalloreductase
TF transferrin
TFR2 transferrin receptor 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
ZNF202 zinc finger protein 202