Showing entry for Hirschsprung Disease


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001337
Disease NameHirschsprung Disease
Disease CUI IdC0019569
MeSH Codes C16   C06  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0025031   HP:0000707  
Human Phenotype Ontology TermAbnormality of the digestive system; Abnormality of the nervous system
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease of anatomical entity
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00451 BXGT003923 GDNF family receptor alpha-2 2675 reviewed
O14641 BXGT004078 Segment polarity protein dishevelled homolog DVL-2 1856 reviewed Signaling
O14684 BXGT004082 Prostaglandin E synthase 9536 reviewed
O15075 BXGT004124 Serine/threonine-protein kinase DCLK1 9201 reviewed Kinase
O15540 BXGT004178 Fatty acid-binding protein, brain 2173 reviewed
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
O75116 BXGT005100 Rho-associated protein kinase 2 9475 reviewed Kinase
O94813 BXGT005337 Slit homolog 2 protein 9353 reviewed
O95050 BXGT005345 Indolethylamine N-methyltransferase 11185 reviewed Enzyme
P00966 BXGT005707 Argininosuccinate synthase 445 reviewed Enzyme
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01138 BXGT005738 Beta-nerve growth factor 4803 reviewed Signaling
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02753 BXGT005945 Retinol-binding protein 4 5950 reviewed Transporter
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P04271 BXGT006177 Protein S100-B 6285 reviewed Calcium-binding protein
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P04731 BXGT006251 Metallothionein-1A 4489 reviewed
P04792 BXGT006264 Heat shock protein beta-1 3315 reviewed
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P05107 BXGT006316 Integrin beta-2 3689 reviewed Receptor
P05230 BXGT006344 Fibroblast growth factor 1 2246 reviewed Signaling
P05362 BXGT006350 Intercellular adhesion molecule 1 3383 reviewed
P05556 BXGT006368 Integrin beta-1 3688 reviewed Receptor
P07384 BXGT006619 Calpain-1 catalytic subunit 823 reviewed Enzyme
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08151 BXGT006731 Zinc finger protein GLI1 2735 reviewed
P09104 BXGT006856 Gamma-enolase 2026 reviewed Enzyme
P09211 BXGT006869 Glutathione S-transferase P 2950 reviewed
P09488 BXGT006899 Glutathione S-transferase Mu 1 2944 reviewed
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
P10721 BXGT007605 Mast/stem cell growth factor receptor Kit 3815 reviewed Kinase
P10745 BXGT007608 Retinol-binding protein 3 5949 reviewed
P11137 BXGT007656 Microtubule-associated protein 2 4133 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16442 BXGT008227 Histo-blood group ABO system transferase 28 reviewed Enzyme
P18089 BXGT008379 Alpha-2B adrenergic receptor 151 reviewed G-protein coupled receptor
P18507 BXGT008411 Gamma-aminobutyric acid receptor subunit gamma-2 2566 reviewed Ion channel
P20813 BXGT008603 Cytochrome P450 2B6 1555 reviewed
P21583 BXGT008667 Kit ligand 4254 reviewed
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P23297 BXGT008848 Protein S100-A1 6271 reviewed Calcium-binding protein
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P24530 BXGT008975 Endothelin receptor type B 1910 reviewed G-protein coupled receptor
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P29475 BXGT009353 Nitric oxide synthase, brain 4842 reviewed
P30711 BXGT009460 Glutathione S-transferase theta-1 2952 reviewed
P31391 BXGT009535 Somatostatin receptor type 4 6754 reviewed G-protein coupled receptor
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P32004 BXGT009594 Neural cell adhesion molecule L1 3897 reviewed
P32929 BXGT009682 Cystathionine gamma-lyase 1491 reviewed Enzyme
P35228 BXGT009800 Nitric oxide synthase, inducible 4843 reviewed
P35348 BXGT009814 Alpha-1A adrenergic receptor 148 reviewed G-protein coupled receptor
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P38919 BXGT010072 Eukaryotic initiation factor 4A-III 9775 reviewed
P41180 BXGT010230 Extracellular calcium-sensing receptor 846 reviewed G-protein coupled receptor
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P41743 BXGT010270 Protein kinase C iota type 5584 reviewed Kinase
P43116 BXGT010357 Prostaglandin E2 receptor EP2 subtype 5732 reviewed G-protein coupled receptor
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P53779 BXGT011014 Mitogen-activated protein kinase 10 5602 reviewed Kinase
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
P61160 BXGT011365 Actin-related protein 2 10097 reviewed Cellular structure
P78563 BXGT011850 Double-stranded RNA-specific editase 1 104 reviewed Enzyme
Q04844 BXGT012789 Acetylcholine receptor subunit epsilon 1145 reviewed Ion channel
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12809 BXGT013267 Potassium voltage-gated channel subfamily H member 2 3757 reviewed Ion channel
Q13464 BXGT013357 Rho-associated protein kinase 1 6093 reviewed Kinase
Q13618 BXGT013382 Cullin-3 8452 reviewed
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q14500 BXGT013477 ATP-sensitive inward rectifier potassium channel 12 3768 reviewed Ion channel
Q14623 BXGT013490 Indian hedgehog protein 3549 reviewed
Q15256 BXGT013553 Receptor-type tyrosine-protein phosphatase R 5801 reviewed
Q15413 BXGT013568 Ryanodine receptor 3 6263 reviewed Ion channel
Q15599 BXGT013583 Na(+)/H(+) exchange regulatory cofactor NHE-RF2 9351 reviewed
Q15652 BXGT013587 Probable JmjC domain-containing histone demethylation protein 2C 221037 reviewed
Q16288 BXGT013625 NT-3 growth factor receptor 4916 reviewed Kinase
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q16828 BXGT013676 Dual specificity protein phosphatase 6 1848 reviewed
Q5T6L4 BXGT015848 Argininosuccinate synthase 1 isoform 1 445 unreviewed
Q6PCD5 BXGT016464 E3 ubiquitin-protein ligase RFWD3 55159 reviewed Enzyme
Q71U36 BXGT016705 Tubulin alpha-1A chain 7846 reviewed Cellular structure
Q86Y07 BXGT017631 Serine/threonine-protein kinase VRK2 7444 reviewed Kinase
Q86YC2 BXGT017633 Partner and localizer of BRCA2 79728 reviewed
Q8IW19 BXGT018351 Aprataxin and PNK-like factor 200558 reviewed
Q8IYD8 BXGT018367 Fanconi anemia group M protein 57697 reviewed Enzyme
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q92736 BXGT019367 Ryanodine receptor 2 6262 reviewed Ion channel
Q92784 BXGT019373 Zinc finger protein DPF3 8110 reviewed Enzyme
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q96F46 BXGT019656 Interleukin-17 receptor A 23765 reviewed
Q9NPD8 BXGT021152 Ubiquitin-conjugating enzyme E2 T 29089 reviewed
Q9NPI8 BXGT021161 Fanconi anemia group F protein 2188 reviewed
Q9NRF2 BXGT021185 SH2B adapter protein 1 25970 reviewed
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9NSE4 BXGT021207 Isoleucine--tRNA ligase, mitochondrial 55699 reviewed Enzyme
Q9NW38 BXGT021230 E3 ubiquitin-protein ligase FANCL 55120 reviewed Enzyme
Q9NYG8 BXGT021257 Potassium channel subfamily K member 4 50801 reviewed Ion channel
Q9NYZ4 BXGT021265 Sialic acid-binding Ig-like lectin 8 27181 reviewed Receptor
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UGI6 BXGT021681 Small conductance calcium-activated potassium channel protein 3 3782 reviewed Ion channel
Q9UI95 BXGT021714 Mitotic spindle assembly checkpoint protein MAD2B 10459 reviewed
Q9UM73 BXGT021773 ALK tyrosine kinase receptor 238 reviewed Kinase
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9Y219 BXGT022206 Protein jagged-2 3714 reviewed
Q9Y243 BXGT022214 RAC-gamma serine/threonine-protein kinase 10000 reviewed Kinase
Q9Y5Y9 BXGT022309 Sodium channel protein type 10 subunit alpha 6336 reviewed Ion channel
Q9Y5Z0 BXGT022310 Beta-secretase 2 25825 reviewed Enzyme
Q99748 BXGT023217 Neurturin 4902 reviewed Signaling
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P20809 BXGT025043 Interleukin-11 3589 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q9UKU9 BXGT025985 Angiopoietin-related protein 2 23452 reviewed Signaling
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