Showing entry for Hereditary hemochromatosis


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008051
Disease NameHereditary hemochromatosis
Disease CUI IdC0392514
MeSH Codes C16   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic disease
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O14786 BXGT004099 Neuropilin-1 8829 reviewed
O15151 BXGT004132 Protein Mdm4 4194 reviewed Nucleic acid binding
O60760 BXGT004899 Hematopoietic prostaglandin D synthase 27306 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00450 BXGT005544 Ceruloplasmin 1356 reviewed Enzyme
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01148 BXGT005739 Progonadoliberin-1 2796 reviewed
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01889 BXGT005809 HLA class I histocompatibility antigen, B-7 alpha chain 3106 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P02787 BXGT005962 Serotransferrin 7018 reviewed Enzyme
P02792 BXGT005966 Ferritin light chain 2512 reviewed Storage
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05164 BXGT006333 Myeloperoxidase 4353 reviewed Enzyme
P05362 BXGT006350 Intercellular adhesion molecule 1 3383 reviewed
P05556 BXGT006368 Integrin beta-1 3688 reviewed Receptor
P06239 BXGT006427 Tyrosine-protein kinase Lck 3932 reviewed Kinase
P06702 BXGT006476 Protein S100-A9 6280 reviewed Calcium-binding protein
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P08151 BXGT006731 Zinc finger protein GLI1 2735 reviewed
P08172 BXGT006737 Muscarinic acetylcholine receptor M2 1129 reviewed G-protein coupled receptor
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08842 BXGT006830 Steryl-sulfatase 412 reviewed Enzyme
P09237 BXGT006874 Matrilysin 4316 reviewed Enzyme
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10747 BXGT007609 T-cell-specific surface glycoprotein CD28 940 reviewed
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14151 BXGT007990 L-selectin 6402 reviewed
P14210 BXGT007994 Hepatocyte growth factor 3082 reviewed Enzyme
P14635 BXGT008031 G2/mitotic-specific cyclin-B1 891 reviewed Enzyme modulator
P15121 BXGT008083 Aldo-keto reductase family 1 member B1 231 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16581 BXGT008245 E-selectin 6401 reviewed
P17931 BXGT008356 Galectin-3 3958 reviewed Signaling
P18089 BXGT008379 Alpha-2B adrenergic receptor 151 reviewed G-protein coupled receptor
P19320 BXGT008470 Vascular cell adhesion protein 1 7412 reviewed
P19438 BXGT008480 Tumor necrosis factor receptor superfamily member 1A 7132 reviewed
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21399 BXGT008646 Cytoplasmic aconitate hydratase 48 reviewed Enzyme
P22004 BXGT008718 Bone morphogenetic protein 6 654 reviewed Signaling
P22309 BXGT008753 UDP-glucuronosyltransferase 1-1 54658 reviewed
P22557 BXGT008783 5-aminolevulinate synthase, erythroid-specific, mitochondrial 212 reviewed Enzyme
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P24530 BXGT008975 Endothelin receptor type B 1910 reviewed G-protein coupled receptor
P25098 BXGT009015 Beta-adrenergic receptor kinase 1 156 reviewed Kinase
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P27169 BXGT009161 Serum paraoxonase/arylesterase 1 5444 reviewed
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P27797 BXGT009206 Calreticulin 811 reviewed Calcium-binding protein
P31391 BXGT009535 Somatostatin receptor type 4 6754 reviewed G-protein coupled receptor
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P31948 BXGT009590 Stress-induced-phosphoprotein 1 10963 reviewed
P33527 BXGT009728 Multidrug resistance-associated protein 1 4363 reviewed Transporter
P35052 BXGT009788 Glypican-1 2817 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35348 BXGT009814 Alpha-1A adrenergic receptor 148 reviewed G-protein coupled receptor
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P41743 BXGT010270 Protein kinase C iota type 5584 reviewed Kinase
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49281 BXGT010689 Natural resistance-associated macrophage protein 2 4891 reviewed Transporter
P49767 BXGT010739 Vascular endothelial growth factor C 7424 reviewed Signaling
P49888 BXGT010756 Estrogen sulfotransferase 6783 reviewed
P51668 BXGT010875 Ubiquitin-conjugating enzyme E2 D1 7321 reviewed Enzyme
P51857 BXGT010899 Aldo-keto reductase family 1 member D1 6718 reviewed Enzyme
P52594 BXGT010936 Arf-GAP domain and FG repeat-containing protein 1 3267 reviewed
P53350 BXGT010984 Serine/threonine-protein kinase PLK1 5347 reviewed Kinase
P54578 BXGT011056 Ubiquitin carboxyl-terminal hydrolase 14 9097 reviewed Enzyme
P58004 BXGT011222 Sestrin-2 83667 reviewed Enzyme
P61006 BXGT011345 Ras-related protein Rab-8A 4218 reviewed
P61769 BXGT011383 Beta-2-microglobulin 567 reviewed Immune response
P62330 BXGT011423 ADP-ribosylation factor 6 382 reviewed
P62491 BXGT011430 Ras-related protein Rab-11A 8766 reviewed
P68363 BXGT011594 Tubulin alpha-1B chain 10376 reviewed Cellular structure
P80075 BXGT011876 C-C motif chemokine 8 6355 reviewed Signaling
P81172 BXGT011935 Hepcidin 57817 reviewed
Q00604 BXGT012538 Norrin 4693 reviewed
Q01094 BXGT012568 Transcription factor E2F1 1869 reviewed Nucleic acid binding
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q07820 BXGT012942 Induced myeloid leukemia cell differentiation protein Mcl-1 4170 reviewed Signaling
Q08050 BXGT012958 Forkhead box protein M1 2305 reviewed
Q13501 BXGT013365 Sequestosome-1 8878 reviewed
Q13541 BXGT013371 Eukaryotic translation initiation factor 4E-binding protein 1 1978 reviewed Nucleic acid binding
Q14289 BXGT013459 Protein-tyrosine kinase 2-beta 2185 reviewed Kinase
Q14451 BXGT013471 Growth factor receptor-bound protein 7 2886 reviewed Receptor
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16549 BXGT013637 Proprotein convertase subtilisin/kexin type 7 9159 reviewed
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16620 BXGT013645 BDNF/NT-3 growth factors receptor 4915 reviewed Kinase
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q53TN4 BXGT015019 Cytochrome b reductase 1 79901 reviewed Enzyme
Q6ZVN8 BXGT016641 Hemojuvelin 148738 reviewed
Q8TDS5 BXGT018813 Oxoeicosanoid receptor 1 165140 reviewed G-protein coupled receptor
Q8TDV0 BXGT018815 Probable G-protein coupled receptor 151 134391 reviewed G-protein coupled receptor
Q92831 BXGT019380 Histone acetyltransferase KAT2B 8850 reviewed
Q92859 BXGT019386 Neogenin 4756 reviewed
Q96QV1 BXGT019722 Hedgehog-interacting protein 64399 reviewed
Q99593 BXGT019939 T-box transcription factor TBX5 6910 reviewed Transcription factor
Q99835 BXGT019969 Smoothened homolog 6608 reviewed G-protein coupled receptor
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9UKV0 BXGT021750 Histone deacetylase 9 9734 reviewed Epigenetic regulator
Q9ULV1 BXGT021764 Frizzled-4 8322 reviewed G-protein coupled receptor
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
Q9Y463 BXGT022269 Dual specificity tyrosine-phosphorylation-regulated kinase 1B 9149 reviewed Kinase
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
P00738 BXGT022874 Haptoglobin 3240 reviewed Enzyme
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q13330 BXGT023103 Metastasis-associated protein MTA1 9112 reviewed Nucleic acid binding
P35670 BXGT023695 Copper-transporting ATPase 2 540 reviewed Transporter
Q99958 BXGT023732 Forkhead box protein C2 2303 reviewed Transcription factor
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease