Showing entry for Variable expressivity


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD016045
Disease NameVariable expressivity
Disease CUI IdC1861403
MeSH Codes   
Disease Class Name
Semantic TypeFinding
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id   
Disease Ontology Class Name
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
O00142 BXGT003883 Thymidine kinase 2, mitochondrial 7084 reviewed Kinase
O00217 BXGT003898 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial 4728 reviewed Enzyme
O00330 BXGT003910 Pyruvate dehydrogenase protein X component, mitochondrial 8050 reviewed Enzyme
O00429 BXGT003919 Dynamin-1-like protein 10059 reviewed Enzyme modulator
O14578 BXGT004072 Citron Rho-interacting kinase 11113 reviewed Kinase
O15239 BXGT004139 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 4694 reviewed
O43707 BXGT004616 Alpha-actinin-4 81 reviewed
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
O75914 BXGT005165 Serine/threonine-protein kinase PAK 3 5063 reviewed Kinase
O95363 BXGT005375 Phenylalanine--tRNA ligase, mitochondrial 10667 reviewed Enzyme
O95470 BXGT005382 Sphingosine-1-phosphate lyase 1 8879 reviewed
P00156 BXGT005469 Cytochrome b 4519 reviewed
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P00734 BXGT005630 Prothrombin 2147 reviewed Enzyme
P00742 BXGT005636 Coagulation factor X 2159 reviewed Enzyme
P00746 BXGT005638 Complement factor D 1675 reviewed Enzyme
P02462 BXGT005881 Collagen alpha-1(IV) chain 1282 reviewed
P02533 BXGT005887 Keratin, type I cytoskeletal 14 3861 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02708 BXGT005927 Acetylcholine receptor subunit alpha 1134 reviewed Ion channel
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03915 BXGT006114 NADH-ubiquinone oxidoreductase chain 5 4540 reviewed Enzyme
P03923 BXGT006115 NADH-ubiquinone oxidoreductase chain 6 4541 reviewed
P04070 BXGT006143 Vitamin K-dependent protein C 5624 reviewed Enzyme
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P06753 BXGT006498 Tropomyosin alpha-3 chain 7170 reviewed Cellular structure
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P07602 BXGT006646 Prosaposin 5660 reviewed
P08572 BXGT006791 Collagen alpha-2(IV) chain 1284 reviewed
P08709 BXGT006818 Coagulation factor VII 2155 reviewed Enzyme
P09417 BXGT006888 Dihydropteridine reductase 5860 reviewed Enzyme
P10070 BXGT007534 Zinc finger protein GLI2 2736 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P12081 BXGT007772 Histidine--tRNA ligase, cytoplasmic 3035 reviewed Enzyme
P13647 BXGT007937 Keratin, type II cytoskeletal 5 3852 reviewed
P17900 BXGT008353 Ganglioside GM2 activator 2760 reviewed Transporter
P19838 BXGT008526 Nuclear factor NF-kappa-B p105 subunit 4790 reviewed Transcription factor
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22557 BXGT008783 5-aminolevulinate synthase, erythroid-specific, mitochondrial 212 reviewed Enzyme
P23258 BXGT008843 Tubulin gamma-1 chain 7283 reviewed Cellular structure
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P31639 BXGT009556 Sodium/glucose cotransporter 2 6524 reviewed Transporter
P35218 BXGT009796 Carbonic anhydrase 5A, mitochondrial 763 reviewed
P35270 BXGT009807 Sepiapterin reductase 6697 reviewed
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
P37088 BXGT009961 Amiloride-sensitive sodium channel subunit alpha 6337 reviewed Ion channel
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P41252 BXGT010245 Isoleucine--tRNA ligase, cytoplasmic 3376 reviewed Enzyme
P46976 BXGT010558 Glycogenin-1 2992 reviewed Enzyme
P47870 BXGT010591 Gamma-aminobutyric acid receptor subunit beta-2 2561 reviewed Ion channel
P48058 BXGT010614 Glutamate receptor 4 2893 reviewed Ion channel
P49588 BXGT010713 Alanine--tRNA ligase, cytoplasmic 16 reviewed Nucleic acid binding
P49767 BXGT010739 Vascular endothelial growth factor C 7424 reviewed Signaling
P49959 BXGT010766 Double-strand break repair protein MRE11 4361 reviewed
P52732 BXGT010948 Kinesin-like protein KIF11 3832 reviewed Cellular structure
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P54136 BXGT011033 Arginine--tRNA ligase, cytoplasmic 5917 reviewed
P54760 BXGT011075 Ephrin type-B receptor 4 2050 reviewed Kinase
P55072 BXGT011103 Transitional endoplasmic reticulum ATPase 7415 reviewed
P55201 BXGT011109 Peregrin 7862 reviewed
P56192 BXGT011149 Methionine--tRNA ligase, cytoplasmic 4141 reviewed
P58335 BXGT011233 Anthrax toxin receptor 2 118429 reviewed Receptor
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
P61769 BXGT011383 Beta-2-microglobulin 567 reviewed Immune response
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P68133 BXGT011578 Actin, alpha skeletal muscle 58 reviewed Cellular structure
P80365 BXGT011895 Corticosteroid 11-beta-dehydrogenase isozyme 2 3291 reviewed Enzyme
P82251 BXGT011971 b(0,+)-type amino acid transporter 1 11136 reviewed Transporter
Q00610 BXGT012539 Clathrin heavy chain 1 1213 reviewed Transporter
Q00653 BXGT012541 Nuclear factor NF-kappa-B p100 subunit 4791 reviewed Transcription factor
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q02108 BXGT012634 Guanylate cyclase soluble subunit alpha-1 2982 reviewed
Q04844 BXGT012789 Acetylcholine receptor subunit epsilon 1145 reviewed Ion channel
Q06210 BXGT012864 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 2673 reviewed Enzyme
Q07837 BXGT012943 Neutral and basic amino acid transport protein rBAT 6519 reviewed Transporter
Q09470 BXGT013037 Potassium voltage-gated channel subfamily A member 1 3736 reviewed Ion channel
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q12791 BXGT013264 Calcium-activated potassium channel subunit alpha-1 3778 reviewed Ion channel
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q12908 BXGT013278 Ileal sodium/bile acid cotransporter 6555 reviewed Transporter
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q13510 BXGT013367 Acid ceramidase 427 reviewed Enzyme
Q13586 BXGT013380 Stromal interaction molecule 1 6786 reviewed
Q13885 BXGT013400 Tubulin beta-2A chain 7280 reviewed Cellular structure
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q14697 BXGT013501 Neutral alpha-glucosidase AB 23193 reviewed Enzyme
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q15858 BXGT013610 Sodium channel protein type 9 subunit alpha 6335 reviewed Ion channel
Q16827 BXGT013675 Receptor-type tyrosine-protein phosphatase O 5800 reviewed
Q4KMG0 BXGT014850 Cell adhesion molecule-related/down-regulated by oncogenes 50937 reviewed
Q6PI48 BXGT016471 Aspartate--tRNA ligase, mitochondrial 55157 reviewed Enzyme
Q7Z3B3 BXGT017249 KAT8 regulatory NSL complex subunit 1 284058 reviewed
Q86WV6 BXGT017626 Stimulator of interferon genes protein 340061 reviewed
Q8NI60 BXGT018572 Atypical kinase COQ8A, mitochondrial 56997 reviewed Kinase
Q8TDQ0 BXGT018810 Hepatitis A virus cellular receptor 2 84868 reviewed
Q8WVQ1 BXGT018996 Soluble calcium-activated nucleotidase 1 124583 reviewed
Q8WXF7 BXGT019011 Atlastin-1 51062 reviewed Enzyme modulator
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q96D31 BXGT019635 Calcium release-activated calcium channel protein 1 84876 reviewed Ion channel
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 reviewed
Q96Q11 BXGT019713 CCA tRNA nucleotidyltransferase 1, mitochondrial 51095 reviewed
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q9BUF5 BXGT020135 Tubulin beta-6 chain 84617 reviewed Cellular structure
Q9BV79 BXGT020141 Enoyl-[acyl-carrier-protein] reductase, mitochondrial 51102 reviewed
Q9BVA1 BXGT020142 Tubulin beta-2B chain 347733 reviewed
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9BZS1 BXGT020203 Forkhead box protein P3 50943 reviewed
Q9GZV3 BXGT020427 High affinity choline transporter 1 60482 reviewed Transporter
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9H3H5 BXGT020461 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1798 reviewed Enzyme
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9HCN6 BXGT020535 Platelet glycoprotein VI 51206 reviewed Receptor
Q9NY47 BXGT021249 Voltage-dependent calcium channel subunit alpha-2/delta-2 9254 reviewed Ion channel
Q9UBQ7 BXGT021661 Glyoxylate reductase/hydroxypyruvate reductase 9380 reviewed Enzyme
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9UPT6 BXGT021801 C-Jun-amino-terminal kinase-interacting protein 3 23162 reviewed Enzyme modulator
Q9Y263 BXGT022220 Phospholipase A-2-activating protein 9373 reviewed Enzyme modulator
Q9Y375 BXGT022253 Complex I intermediate-associated protein 30, mitochondrial 51103 reviewed
Q9Y3Z3 BXGT022268 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 25939 reviewed
P35240 BXGT022927 Merlin 4771 reviewed
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
P09622 BXGT023116 Dihydrolipoyl dehydrogenase, mitochondrial 1738 reviewed Enzyme
P07766 BXGT023327 T-cell surface glycoprotein CD3 epsilon chain 916 reviewed
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
Q9UBP0 BXGT023601 Spastin 6683 reviewed Cellular structure
Q53GS7 BXGT023762 Nucleoporin GLE1 2733 reviewed Transporter
O95140 BXGT024482 Mitofusin-2 9927 reviewed Enzyme
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
Q9Y4W6 BXGT025025 AFG3-like protein 2 10939 reviewed Enzyme
P28715 BXGT025675 DNA repair protein complementing XP-G cells 2073 reviewed
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 reviewed Enzyme
Q8WXI2 BXGT026145 Connector enhancer of kinase suppressor of ras 2 22866 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