Showing entry for Trichohepatoenteric Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015688
Disease NameTrichohepatoenteric Syndrome
Disease CUI IdC1857276
MeSH Codes C23   C16   C13   C17  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic 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
F7VJQ1 BXGT003310 Alternative prion protein 5621 reviewed
O00255 BXGT003903 Menin 4221 reviewed
O00755 BXGT003945 Protein Wnt-7a 7476 reviewed Signaling
O14561 BXGT004071 Acyl carrier protein, mitochondrial 4706 reviewed Transporter
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
O15120 BXGT004129 1-acyl-sn-glycerol-3-phosphate acyltransferase beta 10555 reviewed
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O75362 BXGT005114 Zinc finger protein 217 7764 reviewed
O75844 BXGT005156 CAAX prenyl protease 1 homolog 10269 reviewed Enzyme
O95271 BXGT005369 Poly [ADP-ribose] polymerase tankyrase-1 8658 reviewed
O95970 BXGT005409 Leucine-rich glioma-inactivated protein 1 9211 reviewed
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00480 BXGT005551 Ornithine carbamoyltransferase, mitochondrial 5009 reviewed
P00734 BXGT005630 Prothrombin 2147 reviewed Enzyme
P00740 BXGT005634 Coagulation factor IX 2158 reviewed Enzyme
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P00846 BXGT005674 ATP synthase subunit a 4508 reviewed Transporter
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01308 BXGT005749 Insulin 3630 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02765 BXGT005952 Alpha-2-HS-glycoprotein 197 reviewed Enzyme modulator
P02766 BXGT005953 Transthyretin 7276 reviewed Transporter
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P02792 BXGT005966 Ferritin light chain 2512 reviewed Storage
P04062 BXGT006140 Lysosomal acid glucosylceramidase 2629 reviewed
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04156 BXGT006156 Major prion protein 5621 reviewed
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05093 BXGT006313 Steroid 17-alpha-hydroxylase/17,20 lyase 1586 reviewed
P05108 BXGT006317 Cholesterol side-chain cleavage enzyme, mitochondrial 1583 reviewed
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P05231 BXGT006345 Interleukin-6 3569 reviewed
P05787 BXGT006385 Keratin, type II cytoskeletal 8 3856 reviewed
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P06858 BXGT006515 Lipoprotein lipase 4023 reviewed Enzyme
P07099 BXGT006546 Epoxide hydrolase 1 2052 reviewed
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P07902 BXGT006697 Galactose-1-phosphate uridylyltransferase 2592 reviewed Enzyme
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08151 BXGT006731 Zinc finger protein GLI1 2735 reviewed
P08235 BXGT006751 Mineralocorticoid receptor 4306 reviewed Nuclear receptor
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08588 BXGT006795 Beta-1 adrenergic receptor 153 reviewed G-protein coupled receptor
P08686 BXGT006813 Steroid 21-hydroxylase 1589 reviewed
P08842 BXGT006830 Steryl-sulfatase 412 reviewed Enzyme
P09884 BXGT006937 DNA polymerase alpha catalytic subunit 5422 reviewed
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10646 BXGT007598 Tissue factor pathway inhibitor 7035 reviewed Enzyme modulator
P10828 BXGT007624 Thyroid hormone receptor beta 7068 reviewed Nuclear receptor
P11229 BXGT007676 Muscarinic acetylcholine receptor M1 1128 reviewed G-protein coupled receptor
P11473 BXGT007709 Vitamin D3 receptor 7421 reviewed Nuclear receptor
P11511 BXGT007717 Aromatase 1588 reviewed Enzyme
P11802 BXGT007750 Cyclin-dependent kinase 4 1019 reviewed Kinase
P12235 BXGT007774 ADP/ATP translocase 1 291 reviewed Transporter
P12694 BXGT007835 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial 593 reviewed
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P14416 BXGT008011 D(2) dopamine receptor 1813 reviewed G-protein coupled receptor
P15144 BXGT008087 Aminopeptidase N 290 reviewed Enzyme
P15428 BXGT008121 15-hydroxyprostaglandin dehydrogenase [NAD(+)] 3248 reviewed
P15538 BXGT008137 Cytochrome P450 11B1, mitochondrial 1584 reviewed
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16152 BXGT008201 Carbonyl reductase [NADPH] 1 873 reviewed
P16435 BXGT008226 NADPH--cytochrome P450 reductase 5447 reviewed
P16473 BXGT008234 Thyrotropin receptor 7253 reviewed G-protein coupled receptor
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P18507 BXGT008411 Gamma-aminobutyric acid receptor subunit gamma-2 2566 reviewed Ion channel
P19099 BXGT008456 Cytochrome P450 11B2, mitochondrial 1585 reviewed
P20062 BXGT008543 Transcobalamin-2 6948 reviewed
P20813 BXGT008603 Cytochrome P450 2B6 1555 reviewed
P20936 BXGT008619 Ras GTPase-activating protein 1 5921 reviewed Enzyme modulator
P21397 BXGT008644 Amine oxidase [flavin-containing] A 4128 reviewed
P21439 BXGT008649 Phosphatidylcholine translocator ABCB4 5244 reviewed Transporter
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P22309 BXGT008753 UDP-glucuronosyltransferase 1-1 54658 reviewed
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P27169 BXGT009161 Serum paraoxonase/arylesterase 1 5444 reviewed
P27352 BXGT009174 Cobalamin binding intrinsic factor 2694 reviewed
P27708 BXGT009202 CAD protein 790 reviewed Enzyme
P27797 BXGT009206 Calreticulin 811 reviewed Calcium-binding protein
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29400 BXGT009343 Collagen alpha-5(IV) chain 1287 reviewed
P29401 BXGT009344 Transketolase 7086 reviewed Enzyme
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P29536 BXGT009361 Leiomodin-1 25802 reviewed Cellular structure
P30518 BXGT009428 Vasopressin V2 receptor 554 reviewed G-protein coupled receptor
P30519 BXGT009429 Heme oxygenase 2 3163 reviewed
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P31639 BXGT009556 Sodium/glucose cotransporter 2 6524 reviewed Transporter
P32245 BXGT009614 Melanocortin receptor 4 4160 reviewed G-protein coupled receptor
P34947 BXGT009774 G protein-coupled receptor kinase 5 2869 reviewed Kinase
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35462 BXGT009835 D(3) dopamine receptor 1814 reviewed G-protein coupled receptor
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P35499 BXGT009839 Sodium channel protein type 4 subunit alpha 6329 reviewed Ion channel
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P35579 BXGT009852 Myosin-9 4627 reviewed
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P36021 BXGT009893 Monocarboxylate transporter 8 6567 reviewed Transporter
P36956 BXGT009947 Sterol regulatory element-binding protein 1 6720 reviewed
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P39060 BXGT010088 Collagen alpha-1(XVIII) chain 80781 reviewed
P40225 BXGT010168 Thrombopoietin 7066 reviewed
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P48048 BXGT010610 ATP-sensitive inward rectifier potassium channel 1 3758 reviewed Ion channel
P48061 BXGT010616 Stromal cell-derived factor 1 6387 reviewed
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49763 BXGT010737 Placenta growth factor 5228 reviewed Signaling
P51787 BXGT010889 Potassium voltage-gated channel subfamily KQT member 1 3784 reviewed Ion channel
P52701 BXGT010943 DNA mismatch repair protein Msh6 2956 reviewed Nucleic acid binding
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P54278 BXGT011038 Mismatch repair endonuclease PMS2 5395 reviewed Nucleic acid binding
P55040 BXGT011099 GTP-binding protein GEM 2669 reviewed
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60568 BXGT011315 Interleukin-2 3558 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
P62753 BXGT011454 40S ribosomal protein S6 6194 reviewed Nucleic acid binding
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P68363 BXGT011594 Tubulin alpha-1B chain 10376 reviewed Cellular structure
P80365 BXGT011895 Corticosteroid 11-beta-dehydrogenase isozyme 2 3291 reviewed Enzyme
Q01718 BXGT012609 Adrenocorticotropic hormone receptor 4158 reviewed G-protein coupled receptor
Q01968 BXGT012626 Inositol polyphosphate 5-phosphatase OCRL-1 4952 reviewed Enzyme
Q02643 BXGT012660 Growth hormone-releasing hormone receptor 2692 reviewed G-protein coupled receptor
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12809 BXGT013267 Potassium voltage-gated channel subfamily H member 2 3757 reviewed Ion channel
Q13002 BXGT013303 Glutamate receptor ionotropic, kainate 2 2898 reviewed Ion channel
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q14432 BXGT013469 cGMP-inhibited 3',5'-cyclic phosphodiesterase A 5139 reviewed
Q14524 BXGT013478 Sodium channel protein type 5 subunit alpha 6331 reviewed Ion channel
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15257 BXGT013554 Serine/threonine-protein phosphatase 2A activator 5524 reviewed Enzyme modulator
Q15746 BXGT013591 Myosin light chain kinase, smooth muscle 4638 reviewed Kinase
Q15831 BXGT013604 Serine/threonine-protein kinase STK11 6794 reviewed Kinase
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q16674 BXGT013655 Melanoma-derived growth regulatory protein 8190 reviewed
Q16874 BXGT013685 Cytochrome P450 21-hydroxylase 1589 unreviewed
Q30154 BXGT014296 HLA class II histocompatibility antigen, DR beta 5 chain 3127 reviewed Immune response
Q495M9 BXGT014765 Usher syndrome type-1G protein 124590 reviewed
Q4G0J3 BXGT014809 La-related protein 7 51574 reviewed Nucleic acid binding
Q6PI48 BXGT016471 Aspartate--tRNA ligase, mitochondrial 55157 reviewed Enzyme
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q92736 BXGT019367 Ryanodine receptor 2 6262 reviewed Ion channel
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q969G3 BXGT019607 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 6605 reviewed
Q96HC4 BXGT019671 PDZ and LIM domain protein 5 10611 reviewed Cellular structure
Q96L34 BXGT019689 MAP/microtubule affinity-regulating kinase 4 57787 reviewed Kinase
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 reviewed
Q96SW2 BXGT019743 Protein cereblon 51185 reviewed Enzyme
Q99593 BXGT019939 T-box transcription factor TBX5 6910 reviewed Transcription factor
Q9BQ65 BXGT020107 U6 snRNA phosphodiesterase 79650 reviewed
Q9BZS1 BXGT020203 Forkhead box protein P3 50943 reviewed
Q9GZX6 BXGT020428 Interleukin-22 50616 reviewed
Q9H1D0 BXGT020445 Transient receptor potential cation channel subfamily V member 6 55503 reviewed Ion channel
Q9H9B1 BXGT020501 Histone-lysine N-methyltransferase EHMT1 79813 reviewed Epigenetic regulator
Q9HCG7 BXGT020533 Non-lysosomal glucosylceramidase 57704 reviewed
Q9NNW7 BXGT021139 Thioredoxin reductase 2, mitochondrial 10587 reviewed Enzyme
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9P2R7 BXGT021304 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial 8803 reviewed Enzyme
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UBV7 BXGT021665 Beta-1,4-galactosyltransferase 7 11285 reviewed
Q9UHV8 BXGT021706 Galactoside-binding soluble lectin 13 29124 reviewed Signaling
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UIF7 BXGT021717 Adenine DNA glycosylase 4595 reviewed Enzyme
Q9ULV0 BXGT021763 Unconventional myosin-Vb 4645 reviewed Cellular structure
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9UPY3 BXGT021802 Endoribonuclease Dicer 23405 reviewed Enzyme
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
P09622 BXGT023116 Dihydrolipoyl dehydrogenase, mitochondrial 1738 reviewed Enzyme
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
P07954 BXGT023939 Fumarate hydratase, mitochondrial 2271 reviewed Enzyme
Q6P4Q7 BXGT024061 Metal transporter CNNM4 26504 reviewed
P08123 BXGT024477 Collagen alpha-2(I) chain 1278 reviewed
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 reviewed Epigenetic regulator
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
P18858 BXGT025156 DNA ligase 1 3978 reviewed Enzyme
P19474 BXGT025520 E3 ubiquitin-protein ligase TRIM21 6737 reviewed
Q05086 BXGT025648 Ubiquitin-protein ligase E3A 7337 reviewed
Q9UQE7 BXGT025899 Structural maintenance of chromosomes protein 3 9126 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