Showing entry for Spinal Muscular Atrophy


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001940
Disease NameSpinal Muscular Atrophy
Disease CUI IdC0026847
MeSH Codes C10  
Disease Class NameNervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0003011  
Human Phenotype Ontology TermAbnormality of the musculature
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
O00142 BXGT003883 Thymidine kinase 2, mitochondrial 7084 reviewed Kinase
O14744 BXGT004089 Protein arginine N-methyltransferase 5 10419 reviewed Epigenetic regulator
O15151 BXGT004132 Protein Mdm4 4194 reviewed Nucleic acid binding
O43464 BXGT004595 Serine protease HTRA2, mitochondrial 27429 reviewed
O60741 BXGT004897 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 348980 reviewed
O75817 BXGT005153 Ribonuclease P protein subunit p20 10248 reviewed Enzyme
O75923 BXGT005166 Dysferlin 8291 reviewed Transporter
O75940 BXGT005168 Survival of motor neuron-related-splicing factor 30 10285 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00558 BXGT005579 Phosphoglycerate kinase 1 5230 reviewed Kinase
P01275 BXGT005747 Glucagon 2641 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P03950 BXGT006116 Angiogenin 283 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04083 BXGT006147 Annexin A1 301 reviewed
P04271 BXGT006177 Protein S100-B 6285 reviewed Calcium-binding protein
P04406 BXGT006207 Glyceraldehyde-3-phosphate dehydrogenase 2597 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05187 BXGT006339 Alkaline phosphatase, placental type 250 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06865 BXGT006516 Beta-hexosaminidase subunit alpha 3073 reviewed Enzyme
P07550 BXGT006636 Beta-2 adrenergic receptor 154 reviewed G-protein coupled receptor
P07737 BXGT006663 Profilin-1 5216 reviewed
P08034 BXGT006716 Gap junction beta-1 protein 2705 reviewed Cell-cell junction
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08670 BXGT006810 Vimentin 7431 reviewed
P09651 BXGT006913 Heterogeneous nuclear ribonucleoprotein A1 3178 reviewed
P09923 BXGT006942 Intestinal-type alkaline phosphatase 248 reviewed Enzyme
P09936 BXGT006943 Ubiquitin carboxyl-terminal hydrolase isozyme L1 7345 reviewed Enzyme
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10721 BXGT007605 Mast/stem cell growth factor receptor Kit 3815 reviewed Kinase
P10997 BXGT007643 Islet amyloid polypeptide 3375 reviewed Signaling
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P15941 BXGT008176 Mucin-1 4582 reviewed
P16220 BXGT008206 Cyclic AMP-responsive element-binding protein 1 1385 reviewed
P16671 BXGT008255 Platelet glycoprotein 4 948 reviewed Receptor
P17900 BXGT008353 Ganglioside GM2 activator 2760 reviewed Transporter
P17931 BXGT008356 Galectin-3 3958 reviewed Signaling
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P19838 BXGT008526 Nuclear factor NF-kappa-B p105 subunit 4790 reviewed Transcription factor
P19883 BXGT008528 Follistatin 10468 reviewed Enzyme modulator
P19971 BXGT008537 Thymidine phosphorylase 1890 reviewed Enzyme
P20472 BXGT008578 Parvalbumin alpha 5816 reviewed Calcium-binding protein
P21579 BXGT008665 Synaptotagmin-1 6857 reviewed Transporter
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22102 BXGT008731 Trifunctional purine biosynthetic protein adenosine-3 2618 reviewed Enzyme
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P22314 BXGT008755 Ubiquitin-like modifier-activating enzyme 1 7317 reviewed Enzyme
P23297 BXGT008848 Protein S100-A1 6271 reviewed Calcium-binding protein
P25440 BXGT009044 Bromodomain-containing protein 2 6046 reviewed Epigenetic regulator
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P27487 BXGT009187 Dipeptidyl peptidase 4 1803 reviewed Enzyme
P27797 BXGT009206 Calreticulin 811 reviewed Calcium-binding protein
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29475 BXGT009353 Nitric oxide synthase, brain 4842 reviewed
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35228 BXGT009800 Nitric oxide synthase, inducible 4843 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35858 BXGT009876 Insulin-like growth factor-binding protein complex acid labile subunit 3483 reviewed Receptor
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P37840 BXGT010015 Alpha-synuclein 6622 reviewed Transporter
P41250 BXGT010244 Glycine--tRNA ligase 2617 reviewed Enzyme
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P42858 BXGT010341 Huntingtin 3064 reviewed
P43003 BXGT010347 Excitatory amino acid transporter 1 6507 reviewed Transporter
P43403 BXGT010385 Tyrosine-protein kinase ZAP-70 7535 reviewed Kinase
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46821 BXGT010542 Microtubule-associated protein 1B 4131 reviewed Cellular structure
P49747 BXGT010732 Cartilage oligomeric matrix protein 1311 reviewed
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
P51692 BXGT010885 Signal transducer and activator of transcription 5B 6777 reviewed Nucleic acid binding
P53779 BXGT011014 Mitogen-activated protein kinase 10 5602 reviewed Kinase
P54764 BXGT011078 Ephrin type-A receptor 4 2043 reviewed Kinase
P55774 BXGT011124 C-C motif chemokine 18 6362 reviewed Signaling
P56524 BXGT011176 Histone deacetylase 4 9759 reviewed Epigenetic regulator
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
P60903 BXGT011339 Protein S100-A10 6281 reviewed Calcium-binding protein
P61006 BXGT011345 Ras-related protein Rab-8A 4218 reviewed
P62820 BXGT011461 Ras-related protein Rab-1A 5861 reviewed
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q02779 BXGT012670 Mitogen-activated protein kinase kinase kinase 10 4294 reviewed Kinase
Q04206 BXGT012754 Transcription factor p65 5970 reviewed Transcription factor
Q05193 BXGT012810 Dynamin-1 1759 reviewed Enzyme modulator
Q07817 BXGT012941 Bcl-2-like protein 1 598 reviewed Signaling
Q07955 BXGT012951 Serine/arginine-rich splicing factor 1 6426 reviewed Nucleic acid binding
Q08722 BXGT013002 Leukocyte surface antigen CD47 961 reviewed
Q12778 BXGT013263 Forkhead box protein O1 2308 reviewed
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q13075 BXGT013308 Baculoviral IAP repeat-containing protein 1 4671 reviewed
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13501 BXGT013365 Sequestosome-1 8878 reviewed
Q13510 BXGT013367 Acid ceramidase 427 reviewed Enzyme
Q13705 BXGT013393 Activin receptor type-2B 93 reviewed Kinase
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14457 BXGT013472 Beclin-1 8678 reviewed Enzyme modulator
Q14790 BXGT013505 Caspase-8 841 reviewed Enzyme
Q15078 BXGT013534 Cyclin-dependent kinase 5 activator 1 8851 reviewed Enzyme modulator
Q15303 BXGT013557 Receptor tyrosine-protein kinase erbB-4 2066 reviewed Kinase
Q15485 BXGT013574 Ficolin-2 2220 reviewed Signaling
Q15599 BXGT013583 Na(+)/H(+) exchange regulatory cofactor NHE-RF2 9351 reviewed
Q15843 BXGT013608 NEDD8 4738 reviewed Nucleic acid binding
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q86X55 BXGT017627 Histone-arginine methyltransferase CARM1 10498 reviewed Epigenetic regulator
Q8TCG1 BXGT018797 Protein CIP2A 57650 reviewed
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q92769 BXGT019370 Histone deacetylase 2 3066 reviewed Epigenetic regulator
Q92945 BXGT019397 Far upstream element-binding protein 2 8570 reviewed Enzyme
Q92959 BXGT019400 Solute carrier organic anion transporter family member 2A1 6578 reviewed Transporter
Q99653 BXGT019945 Calcineurin B homologous protein 1 11261 reviewed
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q99720 BXGT019955 Sigma non-opioid intracellular receptor 1 10280 reviewed
Q99986 BXGT019980 Serine/threonine-protein kinase VRK1 7443 reviewed Kinase
Q9H4A3 BXGT020473 Serine/threonine-protein kinase WNK1 65125 reviewed Kinase
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
Q9NPC2 BXGT021150 Potassium channel subfamily K member 9 51305 reviewed Ion channel
Q9UJU2 BXGT021730 Lymphoid enhancer-binding factor 1 51176 reviewed
Q9UKV0 BXGT021750 Histone deacetylase 9 9734 reviewed Epigenetic regulator
Q9UL51 BXGT021754 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 610 reviewed Ion channel
Q9Y580 BXGT022290 RNA-binding protein 7 10179 reviewed Nucleic acid binding
Q9Y618 BXGT022315 Nuclear receptor corepressor 2 9612 reviewed Transcription factor
Q9Y6X9 BXGT022345 ATPase MORC2 22880 reviewed
Q96C86 BXGT022803 m7GpppX diphosphatase 28960 reviewed Enzyme
Q9BQA1 BXGT023026 Methylosome protein 50 79084 reviewed
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
Q9BQQ3 BXGT024065 Golgi reassembly-stacking protein 1 64689 reviewed
P29590 BXGT024350 Protein PML 5371 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
P53621 BXGT025196 Coatomer subunit alpha 1314 reviewed Transporter
Q9NRR4 BXGT025788 Ribonuclease 3 29102 reviewed Enzyme
Q9UBS0 BXGT026113 Ribosomal protein S6 kinase beta-2 6199 reviewed Kinase
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