Showing entry for Generalized glycogen storage disease of infants


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD007542
Disease NameGeneralized glycogen storage disease of infants
Disease CUI IdC0342751
MeSH Codes C16   C18   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic 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
O43451 BXGT004594 Maltase-glucoamylase, intestinal 8972 reviewed Enzyme
O60656 BXGT004889 UDP-glucuronosyltransferase 1-9 54600 reviewed
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02766 BXGT005953 Transthyretin 7276 reviewed Transporter
P03915 BXGT006114 NADH-ubiquinone oxidoreductase chain 5 4540 reviewed Enzyme
P06280 BXGT006433 Alpha-galactosidase A 2717 reviewed
P10253 BXGT007550 Lysosomal alpha-glucosidase 2548 reviewed Enzyme
P11717 BXGT007740 Cation-independent mannose-6-phosphate receptor 3482 reviewed Receptor
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P14410 BXGT008009 Sucrase-isomaltase, intestinal 6476 reviewed Enzyme
P15848 BXGT008162 Arylsulfatase B 411 reviewed
P17707 BXGT008331 S-adenosylmethionine decarboxylase proenzyme 262 reviewed Enzyme
P19224 BXGT008468 UDP-glucuronosyltransferase 1-6 54578 reviewed
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P22309 BXGT008753 UDP-glucuronosyltransferase 1-1 54658 reviewed
P22310 BXGT008754 UDP-glucuronosyltransferase 1-4 54657 reviewed
P23786 BXGT008906 Carnitine O-palmitoyltransferase 2, mitochondrial 1376 reviewed Enzyme
P31947 BXGT009589 14-3-3 protein sigma 2810 reviewed Chaperone
P35475 BXGT009837 Alpha-L-iduronidase 3425 reviewed Enzyme
P35503 BXGT009840 UDP-glucuronosyltransferase 1-3 54659 reviewed
P35858 BXGT009876 Insulin-like growth factor-binding protein complex acid labile subunit 3483 reviewed Receptor
P45379 BXGT010459 Troponin T, cardiac muscle 7139 reviewed Cellular structure
P46976 BXGT010558 Glycogenin-1 2992 reviewed Enzyme
P54803 BXGT011082 Galactocerebrosidase 2581 reviewed
Q04446 BXGT012764 1,4-alpha-glucan-branching enzyme 2632 reviewed Enzyme
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q9HAW7 BXGT020508 UDP-glucuronosyltransferase 1-7 54577 reviewed
Q9HAW8 BXGT020509 UDP-glucuronosyltransferase 1-10 54575 reviewed
Q9HAW9 BXGT020510 UDP-glucuronosyltransferase 1-8 54576 reviewed
Q9UGJ0 BXGT021683 5'-AMP-activated protein kinase subunit gamma-2 51422 reviewed Enzyme modulator
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
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