Showing entry for Von Hippel-Lindau Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001336
Disease NameVon Hippel-Lindau Syndrome
Disease CUI IdC0019562
MeSH Codes C16   C10   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7   DOID:14566  
Disease Ontology Class Namedisease of anatomical entity; disease of cellular proliferation
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
O00255 BXGT003903 Menin 4221 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14965 BXGT004117 Aurora kinase A 6790 reviewed Kinase
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00742 BXGT005636 Coagulation factor X 2159 reviewed Enzyme
P00749 BXGT005641 Urokinase-type plasminogen activator 5328 reviewed Enzyme
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01215 BXGT005743 Glycoprotein hormones alpha chain 1081 reviewed
P01275 BXGT005747 Glucagon 2641 reviewed
P01303 BXGT005748 Pro-neuropeptide Y 4852 reviewed Signaling
P02749 BXGT005941 Beta-2-glycoprotein 1 350 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05026 BXGT006296 Sodium/potassium-transporting ATPase subunit beta-1 481 reviewed Transporter
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P07550 BXGT006636 Beta-2 adrenergic receptor 154 reviewed G-protein coupled receptor
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08254 BXGT006758 Stromelysin-1 4314 reviewed Enzyme
P08581 BXGT006794 Hepatocyte growth factor receptor 4233 reviewed Kinase
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10276 BXGT007553 Retinoic acid receptor alpha 5914 reviewed Nuclear receptor
P10826 BXGT007622 Retinoic acid receptor beta 5915 reviewed Nuclear receptor
P10828 BXGT007624 Thyroid hormone receptor beta 7068 reviewed Nuclear receptor
P10909 BXGT007630 Clusterin 1191 reviewed
P11086 BXGT007652 Phenylethanolamine N-methyltransferase 5409 reviewed Enzyme
P11169 BXGT007664 Solute carrier family 2, facilitated glucose transporter member 3 6515 reviewed Transporter
P11217 BXGT007674 Glycogen phosphorylase, muscle form 5837 reviewed Enzyme
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P11802 BXGT007750 Cyclin-dependent kinase 4 1019 reviewed Kinase
P12830 BXGT007852 Cadherin-1 999 reviewed
P15531 BXGT008136 Nucleoside diphosphate kinase A 4830 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P20132 BXGT008546 L-serine dehydratase/L-threonine deaminase 10993 reviewed Enzyme
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21980 BXGT008715 Protein-glutamine gamma-glutamyltransferase 2 7052 reviewed Enzyme
P22830 BXGT008809 Ferrochelatase, mitochondrial 2235 reviewed Enzyme
P23975 BXGT008935 Sodium-dependent noradrenaline transporter 6530 reviewed Transporter
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
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
P46527 BXGT010525 Cyclin-dependent kinase inhibitor 1B 1027 reviewed
P48061 BXGT010616 Stromal cell-derived factor 1 6387 reviewed
P48735 BXGT010657 Isocitrate dehydrogenase [NADP], mitochondrial 3418 reviewed
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49789 BXGT010742 Bis(5'-adenosyl)-triphosphatase 2272 reviewed
P50281 BXGT010788 Matrix metalloproteinase-14 4323 reviewed Enzyme
P53355 BXGT010985 Death-associated protein kinase 1 1612 reviewed Kinase
P54219 BXGT011037 Chromaffin granule amine transporter 6570 reviewed Transporter
P58004 BXGT011222 Sestrin-2 83667 reviewed Enzyme
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
Q00534 BXGT012533 Cyclin-dependent kinase 6 1021 reviewed Kinase
Q00796 BXGT012549 Sorbitol dehydrogenase 6652 reviewed Enzyme
Q05940 BXGT012846 Synaptic vesicular amine transporter 6571 reviewed Transporter
Q15369 BXGT013560 Elongin-C 6921 reviewed Enzyme modulator
Q15370 BXGT013561 Elongin-B 6923 reviewed Transcription factor
Q15382 BXGT013563 GTP-binding protein Rheb 6009 reviewed Enzyme modulator
Q15582 BXGT013581 Transforming growth factor-beta-induced protein ig-h3 7045 reviewed Signaling
Q15831 BXGT013604 Serine/threonine-protein kinase STK11 6794 reviewed Kinase
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q16790 BXGT013670 Carbonic anhydrase 9 768 reviewed
Q6NYC1 BXGT016436 Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 23210 reviewed Receptor
Q86U86 BXGT017611 Protein polybromo-1 55193 reviewed Epigenetic regulator
Q99814 BXGT019965 Endothelial PAS domain-containing protein 1 2034 reviewed Transcription factor
Q99828 BXGT019967 Calcium and integrin-binding protein 1 10519 reviewed
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9GZT9 BXGT020425 Egl nine homolog 1 54583 reviewed
Q9H6Z9 BXGT020488 Egl nine homolog 3 112399 reviewed
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UJU2 BXGT021730 Lymphoid enhancer-binding factor 1 51176 reviewed
P19235 BXGT022895 Erythropoietin receptor 2057 reviewed Receptor
P35240 BXGT022927 Merlin 4771 reviewed
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q9BY76 BXGT025687 Angiopoietin-related protein 4 51129 reviewed Signaling
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 reviewed Enzyme
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