Showing entry for Tuberous Sclerosis


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002918
Disease NameTuberous Sclerosis
Disease CUI IdC0041341
MeSH Codes C16   C04   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
Semantic TypeNeoplastic Process
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00255 BXGT003903 Menin 4221 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14920 BXGT004110 Inhibitor of nuclear factor kappa-B kinase subunit beta 3551 reviewed Kinase
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15118 BXGT004127 NPC intracellular cholesterol transporter 1 4864 reviewed Transporter
O15527 BXGT004176 N-glycosylase/DNA lyase 4968 reviewed
O43278 BXGT004581 Kunitz-type protease inhibitor 1 6692 reviewed
O43353 BXGT004589 Receptor-interacting serine/threonine-protein kinase 2 8767 reviewed Kinase
O43521 BXGT004598 Bcl-2-like protein 11 10018 reviewed
O43612 BXGT004605 Orexin 3060 reviewed
O76003 BXGT005170 Glutaredoxin-3 10539 reviewed Enzyme
O94907 BXGT005340 Dickkopf-related protein 1 22943 reviewed
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01138 BXGT005738 Beta-nerve growth factor 4803 reviewed Signaling
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01732 BXGT005782 T-cell surface glycoprotein CD8 alpha chain 925 reviewed
P02774 BXGT005959 Vitamin D-binding protein 2638 reviewed Transporter
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P04054 BXGT006136 Phospholipase A2 5319 reviewed Enzyme
P04083 BXGT006147 Annexin A1 301 reviewed
P04271 BXGT006177 Protein S100-B 6285 reviewed Calcium-binding protein
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04818 BXGT006269 Thymidylate synthase 7298 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P05362 BXGT006350 Intercellular adhesion molecule 1 3383 reviewed
P07741 BXGT006666 Adenine phosphoribosyltransferase 353 reviewed
P08133 BXGT006727 Annexin A6 309 reviewed
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08397 BXGT006768 Porphobilinogen deaminase 3145 reviewed Enzyme
P08473 BXGT006773 Neprilysin 4311 reviewed Enzyme
P08670 BXGT006810 Vimentin 7431 reviewed
P09172 BXGT006865 Dopamine beta-hydroxylase 1621 reviewed
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11473 BXGT007709 Vitamin D3 receptor 7421 reviewed Nuclear receptor
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14210 BXGT007994 Hepatocyte growth factor 3082 reviewed Enzyme
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15559 BXGT008139 NAD(P)H dehydrogenase [quinone] 1 1728 reviewed
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15941 BXGT008176 Mucin-1 4582 reviewed
P16152 BXGT008201 Carbonyl reductase [NADPH] 1 873 reviewed
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P16442 BXGT008227 Histo-blood group ABO system transferase 28 reviewed Enzyme
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P19021 BXGT008449 Peptidyl-glycine alpha-amidating monooxygenase 5066 reviewed Enzyme
P19838 BXGT008526 Nuclear factor NF-kappa-B p105 subunit 4790 reviewed Transcription factor
P20472 BXGT008578 Parvalbumin alpha 5816 reviewed Calcium-binding protein
P20936 BXGT008619 Ras GTPase-activating protein 1 5921 reviewed Enzyme modulator
P21333 BXGT008638 Filamin-A 2316 reviewed
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P23219 BXGT008837 Prostaglandin G/H synthase 1 5742 reviewed Enzyme
P23297 BXGT008848 Protein S100-A1 6271 reviewed Calcium-binding protein
P23443 BXGT008866 Ribosomal protein S6 kinase beta-1 6198 reviewed Kinase
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28335 BXGT009255 5-hydroxytryptamine receptor 2C 3358 reviewed G-protein coupled receptor
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29074 BXGT009313 Tyrosine-protein phosphatase non-receptor type 4 5775 reviewed
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P31751 BXGT009576 RAC-beta serine/threonine-protein kinase 208 reviewed Kinase
P31946 BXGT009588 14-3-3 protein beta/alpha 7529 reviewed Chaperone
P33527 BXGT009728 Multidrug resistance-associated protein 1 4363 reviewed Transporter
P34130 BXGT009752 Neurotrophin-4 4909 reviewed Signaling
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35916 BXGT009881 Vascular endothelial growth factor receptor 3 2324 reviewed Kinase
P39060 BXGT010088 Collagen alpha-1(XVIII) chain 80781 reviewed
P40189 BXGT010164 Interleukin-6 receptor subunit beta 3572 reviewed Signaling
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
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
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P47736 BXGT010579 Rap1 GTPase-activating protein 1 5909 reviewed Enzyme modulator
P48506 BXGT010635 Glutamate--cysteine ligase catalytic subunit 2729 reviewed Enzyme
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49767 BXGT010739 Vascular endothelial growth factor C 7424 reviewed Signaling
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P50613 BXGT010815 Cyclin-dependent kinase 7 1022 reviewed Kinase
P54646 BXGT011062 5'-AMP-activated protein kinase catalytic subunit alpha-2 5563 reviewed Kinase
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P55157 BXGT011108 Microsomal triglyceride transfer protein large subunit 4547 reviewed Transporter
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P62753 BXGT011454 40S ribosomal protein S6 6194 reviewed Nucleic acid binding
P62834 BXGT011464 Ras-related protein Rap-1A 5906 reviewed Enzyme modulator
P63104 BXGT011499 14-3-3 protein zeta/delta 7534 reviewed Chaperone
Q01650 BXGT012603 Large neutral amino acids transporter small subunit 1 8140 reviewed Transporter
Q04637 BXGT012771 Eukaryotic translation initiation factor 4 gamma 1 1981 reviewed Nucleic acid binding
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q06830 BXGT012894 Peroxiredoxin-1 5052 reviewed Enzyme
Q07021 BXGT012915 Complement component 1 Q subcomponent-binding protein, mitochondrial 708 reviewed
Q09028 BXGT013025 Histone-binding protein RBBP4 5928 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q13131 BXGT013314 5'-AMP-activated protein kinase catalytic subunit alpha-1 5562 reviewed Kinase
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13177 BXGT013323 Serine/threonine-protein kinase PAK 2 5062 reviewed Kinase
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13541 BXGT013371 Eukaryotic translation initiation factor 4E-binding protein 1 1978 reviewed Nucleic acid binding
Q13586 BXGT013380 Stromal interaction molecule 1 6786 reviewed
Q14289 BXGT013459 Protein-tyrosine kinase 2-beta 2185 reviewed Kinase
Q14957 BXGT013514 Glutamate receptor ionotropic, NMDA 2C 2905 reviewed Ion channel
Q15078 BXGT013534 Cyclin-dependent kinase 5 activator 1 8851 reviewed Enzyme modulator
Q15109 BXGT013537 Advanced glycosylation end product-specific receptor 177 reviewed Receptor
Q15116 BXGT013539 Programmed cell death protein 1 5133 reviewed
Q15139 BXGT013546 Serine/threonine-protein kinase D1 5587 reviewed Kinase
Q15369 BXGT013560 Elongin-C 6921 reviewed Enzyme modulator
Q15382 BXGT013563 GTP-binding protein Rheb 6009 reviewed Enzyme modulator
Q15485 BXGT013574 Ficolin-2 2220 reviewed Signaling
Q15831 BXGT013604 Serine/threonine-protein kinase STK11 6794 reviewed Kinase
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q86V86 BXGT017617 Serine/threonine-protein kinase pim-3 415116 reviewed
Q8NEB9 BXGT018553 Phosphatidylinositol 3-kinase catalytic subunit type 3 5289 reviewed Kinase
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8TCG1 BXGT018797 Protein CIP2A 57650 reviewed
Q96D31 BXGT019635 Calcium release-activated calcium channel protein 1 84876 reviewed Ion channel
Q96FE5 BXGT019657 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 84894 reviewed Receptor
Q99497 BXGT019926 Protein/nucleic acid deglycase DJ-1 11315 reviewed Enzyme
Q9GZX6 BXGT020428 Interleukin-22 50616 reviewed
Q9H2X9 BXGT020459 Solute carrier family 12 member 5 57468 reviewed Transporter
Q9HBE5 BXGT020518 Interleukin-21 receptor 50615 reviewed Receptor
Q9NPH5 BXGT021159 NADPH oxidase 4 50507 reviewed Enzyme
Q9NYK1 BXGT021258 Toll-like receptor 7 51284 reviewed
Q9UJ41 BXGT021723 Rab5 GDP/GTP exchange factor 27342 reviewed Enzyme modulator
Q9Y243 BXGT022214 RAC-gamma serine/threonine-protein kinase 10000 reviewed Kinase
Q9Y275 BXGT022223 Tumor necrosis factor ligand superfamily member 13B 10673 reviewed
Q9Y478 BXGT022271 5'-AMP-activated protein kinase subunit beta-1 5564 reviewed Kinase
Q9Y5Y6 BXGT022308 Suppressor of tumorigenicity 14 protein 6768 reviewed Enzyme
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
O60502 BXGT023392 Protein O-GlcNAcase 10724 reviewed
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
O60232 BXGT024169 Protein ZNRD2 10534 reviewed
O95399 BXGT024237 Urotensin-2 10911 reviewed
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
Q8N122 BXGT026091 Regulatory-associated protein of mTOR 57521 reviewed
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