Showing entry for Machado-Joseph Disease


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001768
Disease NameMachado-Joseph Disease
Disease CUI IdC0024408
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease 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
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
O15244 BXGT004140 Solute carrier family 22 member 2 6582 reviewed Transporter
O43612 BXGT004605 Orexin 3060 reviewed
O95166 BXGT005353 Gamma-aminobutyric acid receptor-associated protein 11337 reviewed Cellular structure
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P01011 BXGT005715 Alpha-1-antichymotrypsin 12 reviewed Enzyme modulator
P01034 BXGT005721 Cystatin-C 1471 reviewed
P01303 BXGT005748 Pro-neuropeptide Y 4852 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02766 BXGT005953 Transthyretin 7276 reviewed Transporter
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03905 BXGT006113 NADH-ubiquinone oxidoreductase chain 4 4538 reviewed Enzyme
P04054 BXGT006136 Phospholipase A2 5319 reviewed Enzyme
P04179 BXGT006163 Superoxide dismutase [Mn], mitochondrial 6648 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04792 BXGT006264 Heat shock protein beta-1 3315 reviewed
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08397 BXGT006768 Porphobilinogen deaminase 3145 reviewed Enzyme
P0CG47 BXGT007467 Polyubiquitin-B 7314 reviewed Nucleic acid binding
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P14555 BXGT008020 Phospholipase A2, membrane associated 5320 reviewed Enzyme
P15848 BXGT008162 Arylsulfatase B 411 reviewed
P16220 BXGT008206 Cyclic AMP-responsive element-binding protein 1 1385 reviewed
P20810 BXGT008602 Calpastatin 831 reviewed
P21583 BXGT008667 Kit ligand 4254 reviewed
P24666 BXGT008986 Low molecular weight phosphotyrosine protein phosphatase 52 reviewed
P28161 BXGT009234 Glutathione S-transferase Mu 2 2946 reviewed
P34932 BXGT009772 Heat shock 70 kDa protein 4 3308 reviewed
P35219 BXGT009797 Carbonic anhydrase-related protein 767 reviewed
P35398 BXGT009825 Nuclear receptor ROR-alpha 6095 reviewed Nuclear receptor
P35858 BXGT009876 Insulin-like growth factor-binding protein complex acid labile subunit 3483 reviewed Receptor
P37840 BXGT010015 Alpha-synuclein 6622 reviewed Transporter
P42858 BXGT010341 Huntingtin 3064 reviewed
P48775 BXGT010662 Tryptophan 2,3-dioxygenase 6999 reviewed Enzyme
P55072 BXGT011103 Transitional endoplasmic reticulum ATPase 7415 reviewed
P62820 BXGT011461 Ras-related protein Rab-1A 5861 reviewed
P63208 BXGT011507 S-phase kinase-associated protein 1 6500 reviewed Enzyme
P78344 BXGT011835 Eukaryotic translation initiation factor 4 gamma 2 1982 reviewed Nucleic acid binding
P98177 BXGT012232 Forkhead box protein O4 4303 reviewed
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q01959 BXGT012624 Sodium-dependent dopamine transporter 6531 reviewed Transporter
Q05940 BXGT012846 Synaptic vesicular amine transporter 6571 reviewed Transporter
Q07812 BXGT012940 Apoptosis regulator BAX 581 reviewed Signaling
Q09013 BXGT013023 Myotonin-protein kinase 1760 reviewed Kinase
Q12923 BXGT013281 Tyrosine-protein phosphatase non-receptor type 13 5783 reviewed
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13616 BXGT013381 Cullin-1 8454 reviewed Enzyme
Q14457 BXGT013472 Beclin-1 8678 reviewed Enzyme modulator
Q14576 BXGT013487 ELAV-like protein 3 1995 reviewed
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q96AP4 BXGT019618 Zinc finger-containing ubiquitin peptidase 1 221302 reviewed
Q96RJ3 BXGT019729 Tumor necrosis factor receptor superfamily member 13C 115650 reviewed
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q9BXH1 BXGT020167 Bcl-2-binding component 3 27113 reviewed
Q9UJW3 BXGT021732 DNA (cytosine-5)-methyltransferase 3-like 29947 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 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