Showing entry for Neurofibromatosis 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002047
Disease NameNeurofibromatosis 1
Disease CUI IdC0027831
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
O14733 BXGT004087 Dual specificity mitogen-activated protein kinase kinase 7 5609 reviewed Kinase
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O14965 BXGT004117 Aurora kinase A 6790 reviewed Kinase
O15392 BXGT004162 Baculoviral IAP repeat-containing protein 5 332 reviewed Enzyme modulator
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O75530 BXGT005135 Polycomb protein EED 8726 reviewed
O75874 BXGT005157 Isocitrate dehydrogenase [NADP] cytoplasmic 3417 reviewed
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01138 BXGT005738 Beta-nerve growth factor 4803 reviewed Signaling
P01148 BXGT005739 Progonadoliberin-1 2796 reviewed
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01215 BXGT005743 Glycoprotein hormones alpha chain 1081 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02774 BXGT005959 Vitamin D-binding protein 2638 reviewed Transporter
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04271 BXGT006177 Protein S100-B 6285 reviewed Calcium-binding protein
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P06401 BXGT006436 Progesterone receptor 5241 reviewed Nuclear receptor
P07741 BXGT006666 Adenine phosphoribosyltransferase 353 reviewed
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08138 BXGT006729 Tumor necrosis factor receptor superfamily member 16 4804 reviewed Receptor
P08151 BXGT006731 Zinc finger protein GLI1 2735 reviewed
P08575 BXGT006793 Receptor-type tyrosine-protein phosphatase C 5788 reviewed Enzyme
P08697 BXGT006815 Alpha-2-antiplasmin 5345 reviewed Enzyme modulator
P09104 BXGT006856 Gamma-enolase 2026 reviewed Enzyme
P09211 BXGT006869 Glutathione S-transferase P 2950 reviewed
P0DP23 BXGT007520 Calmodulin-1 808 reviewed
P0DP24 BXGT007521 Calmodulin-2 808 reviewed
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10644 BXGT007597 cAMP-dependent protein kinase type I-alpha regulatory subunit 5573 reviewed
P10646 BXGT007598 Tissue factor pathway inhibitor 7035 reviewed Enzyme modulator
P10721 BXGT007605 Mast/stem cell growth factor receptor Kit 3815 reviewed Kinase
P10827 BXGT007623 Thyroid hormone receptor alpha 7067 reviewed Nuclear receptor
P11086 BXGT007652 Phenylethanolamine N-methyltransferase 5409 reviewed Enzyme
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P11387 BXGT007696 DNA topoisomerase 1 7150 reviewed Enzyme
P11388 BXGT007697 DNA topoisomerase 2-alpha 7153 reviewed
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P11473 BXGT007709 Vitamin D3 receptor 7421 reviewed Nuclear receptor
P11802 BXGT007750 Cyclin-dependent kinase 4 1019 reviewed Kinase
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13501 BXGT007917 C-C motif chemokine 5 6352 reviewed Signaling
P13569 BXGT007923 Cystic fibrosis transmembrane conductance regulator 1080 reviewed Ion channel
P14210 BXGT007994 Hepatocyte growth factor 3082 reviewed Enzyme
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15144 BXGT008087 Aminopeptidase N 290 reviewed Enzyme
P15531 BXGT008136 Nucleoside diphosphate kinase A 4830 reviewed Kinase
P16220 BXGT008206 Cyclic AMP-responsive element-binding protein 1 1385 reviewed
P16234 BXGT008209 Platelet-derived growth factor receptor alpha 5156 reviewed Kinase
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P20132 BXGT008546 L-serine dehydratase/L-threonine deaminase 10993 reviewed Enzyme
P20936 BXGT008619 Ras GTPase-activating protein 1 5921 reviewed Enzyme modulator
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21583 BXGT008667 Kit ligand 4254 reviewed
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P23297 BXGT008848 Protein S100-A1 6271 reviewed Calcium-binding protein
P23443 BXGT008866 Ribosomal protein S6 kinase beta-1 6198 reviewed Kinase
P23975 BXGT008935 Sodium-dependent noradrenaline transporter 6530 reviewed Transporter
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P26640 BXGT009123 Valine--tRNA ligase 7407 reviewed
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P28562 BXGT009270 Dual specificity protein phosphatase 1 1843 reviewed
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P29373 BXGT009337 Cellular retinoic acid-binding protein 2 1382 reviewed
P29597 BXGT009367 Non-receptor tyrosine-protein kinase TYK2 7297 reviewed Kinase
P30043 BXGT009394 Flavin reductase (NADPH) 645 reviewed Enzyme
P31645 BXGT009558 Sodium-dependent serotonin transporter 6532 reviewed Transporter
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P36894 BXGT009939 Bone morphogenetic protein receptor type-1A 657 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41161 BXGT010229 ETS translocation variant 5 2119 reviewed Transcription factor
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
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P45983 BXGT010494 Mitogen-activated protein kinase 8 5599 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P46527 BXGT010525 Cyclin-dependent kinase inhibitor 1B 1027 reviewed
P46940 BXGT010556 Ras GTPase-activating-like protein IQGAP1 8826 reviewed Enzyme modulator
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
P49763 BXGT010737 Placenta growth factor 5228 reviewed Signaling
P49765 BXGT010738 Vascular endothelial growth factor B 7423 reviewed Signaling
P49913 BXGT010761 Cathelicidin antimicrobial peptide 820 reviewed
P50579 BXGT010812 Methionine aminopeptidase 2 10988 reviewed
P51531 BXGT010851 Probable global transcription activator SNF2L2 6595 reviewed Epigenetic regulator
P52209 BXGT010923 6-phosphogluconate dehydrogenase, decarboxylating 5226 reviewed Enzyme
P52701 BXGT010943 DNA mismatch repair protein Msh6 2956 reviewed Nucleic acid binding
P52788 BXGT010953 Spermine synthase 6611 reviewed
P54278 BXGT011038 Mismatch repair endonuclease PMS2 5395 reviewed Nucleic acid binding
P54762 BXGT011076 Ephrin type-B receptor 1 2047 reviewed Kinase
P55072 BXGT011103 Transitional endoplasmic reticulum ATPase 7415 reviewed
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
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
Q00613 BXGT012540 Heat shock factor protein 1 3297 reviewed Transcription factor
Q00796 BXGT012549 Sorbitol dehydrogenase 6652 reviewed Enzyme
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q04609 BXGT012768 Glutamate carboxypeptidase 2 2346 reviewed Enzyme
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q13153 BXGT013319 Serine/threonine-protein kinase PAK 1 5058 reviewed Kinase
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13541 BXGT013371 Eukaryotic translation initiation factor 4E-binding protein 1 1978 reviewed Nucleic acid binding
Q13796 BXGT013395 Protein Shroom2 357 reviewed
Q14524 BXGT013478 Sodium channel protein type 5 subunit alpha 6331 reviewed Ion channel
Q15022 BXGT013523 Polycomb protein SUZ12 23512 reviewed Nucleic acid binding
Q15257 BXGT013554 Serine/threonine-protein phosphatase 2A activator 5524 reviewed Enzyme modulator
Q15303 BXGT013557 Receptor tyrosine-protein kinase erbB-4 2066 reviewed Kinase
Q15382 BXGT013563 GTP-binding protein Rheb 6009 reviewed Enzyme modulator
Q15418 BXGT013569 Ribosomal protein S6 kinase alpha-1 6195 reviewed Kinase
Q16288 BXGT013625 NT-3 growth factor receptor 4916 reviewed Kinase
Q16555 BXGT013638 Dihydropyrimidinase-related protein 2 1808 reviewed Enzyme
Q16828 BXGT013676 Dual specificity protein phosphatase 6 1848 reviewed
Q86UE8 BXGT017612 Serine/threonine-protein kinase tousled-like 2 11011 reviewed Kinase
Q8WWY3 BXGT019006 U4/U6 small nuclear ribonucleoprotein Prp31 26121 reviewed Nucleic acid binding
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q96QE3 BXGT019718 ATPase family AAA domain-containing protein 5 79915 reviewed
Q99814 BXGT019965 Endothelial PAS domain-containing protein 1 2034 reviewed Transcription factor
Q99828 BXGT019967 Calcium and integrin-binding protein 1 10519 reviewed
Q9H2X6 BXGT020458 Homeodomain-interacting protein kinase 2 28996 reviewed Kinase
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UM73 BXGT021773 ALK tyrosine kinase receptor 238 reviewed Kinase
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
Q92847 BXGT022673 Growth hormone secretagogue receptor type 1 2693 reviewed G-protein coupled receptor
P35240 BXGT022927 Merlin 4771 reviewed
O43148 BXGT023017 mRNA cap guanine-N7 methyltransferase 8731 reviewed
P07954 BXGT023939 Fumarate hydratase, mitochondrial 2271 reviewed Enzyme
Q6P4Q7 BXGT024061 Metal transporter CNNM4 26504 reviewed
P0DP25 BXGT024595 Calmodulin-3 808 reviewed
Q8NEZ4 BXGT024850 Histone-lysine N-methyltransferase 2C 58508 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
Q7Z699 BXGT025789 Sprouty-related, EVH1 domain-containing protein 1 161742 reviewed Receptor
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
Q8N122 BXGT026091 Regulatory-associated protein of mTOR 57521 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