Hemochromatosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. (Human Disease Ontology, DOID_2352)
External Link https://www.disgenet.org/browser/0/1/0/C0018995
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Genes

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

Symbol Name
ACO1 aconitase 1, soluble
ADIPOQ adiponectin, C1Q and collagen domain containing
AGTR1 angiotensin II receptor, type 1
AKR1D1 aldo-keto reductase family 1, member D1
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALB albumin
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
APOE apolipoprotein E
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATP7B ATPase, Cu++ transporting, beta polypeptide
B2M beta-2-microglobulin
BCO1 beta-carotene oxygenase 1
BMP2 bone morphogenetic protein 2
BMP6 bone morphogenetic protein 6
BTBD9 BTB (POZ) domain containing 9
CALR calreticulin
CCL2 chemokine (C-C motif) ligand 2
CD68 CD68 molecule
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CP ceruloplasmin (ferroxidase)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYBRD1 cytochrome b reductase 1
CYLD cylindromatosis (turban tumor syndrome)
EAF2 ELL associated factor 2
ELANE elastase, neutrophil expressed
EPO erythropoietin
F5 coagulation factor V (proaccelerin, labile factor)
FADS2 fatty acid desaturase 2
FOXC2 forkhead box C2
FTH1 ferritin, heavy polypeptide 1
FTL ferritin, light polypeptide
FUT2 fucosyltransferase 2 (secretor status included)
FXN frataxin
GAB3 GRB2-associated binding protein 3
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GAST gastrin
GC group-specific component (vitamin D binding protein)
GDF15 growth differentiation factor 15
GNPAT glyceronephosphate O-acyltransferase
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GSTP1 glutathione S-transferase pi 1
HAMP hepcidin antimicrobial peptide
HEPH hephaestin
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-F major histocompatibility complex, class I, F
HMOX1 heme oxygenase 1
HP haptoglobin
HPGDS hematopoietic prostaglandin D synthase
IFNG interferon, gamma
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL10 interleukin 10
IL6 interleukin 6
IREB2 iron-responsive element binding protein 2
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MPO myeloperoxidase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NFE2L2 nuclear factor, erythroid 2-like 2
NMBR neuromedin B receptor
NUP42 nucleoporin 42
PCSK7 proprotein convertase subtilisin/kexin type 7
PGF placental growth factor
PIEZO1 piezo-type mechanosensitive ion channel component 1
PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11
S100A9 S100 calcium binding protein A9
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SHBG sex hormone-binding globulin
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SMAD1 SMAD family member 1
SMAD7 SMAD family member 7
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SUCNR1 succinate receptor 1
TF transferrin
TFR2 transferrin receptor 2
TFRC transferrin receptor
TIMP1 TIMP metallopeptidase inhibitor 1
TLR4 toll-like receptor 4
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNMD tenomodulin
TP53 tumor protein p53
TRIM31 tripartite motif containing 31
UBE2D1 ubiquitin-conjugating enzyme E2D 1
UBL3 ubiquitin-like 3
UROD uroporphyrinogen decarboxylase
ZKSCAN8 zinc finger with KRAB and SCAN domains 8