Showing entry for Congenital Disorders of Glycosylation


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD006816
Disease NameCongenital Disorders of Glycosylation
Disease CUI IdC0282577
MeSH Codes C16   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O43451 BXGT004594 Maltase-glucoamylase, intestinal 8972 reviewed Enzyme
P01008 BXGT005713 Antithrombin-III 462 reviewed Enzyme modulator
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P02656 BXGT005913 Apolipoprotein C-III 345 reviewed
P02787 BXGT005962 Serotransferrin 7018 reviewed Enzyme
P03951 BXGT006117 Coagulation factor XI 2160 reviewed Enzyme
P05107 BXGT006316 Integrin beta-2 3689 reviewed Receptor
P05187 BXGT006339 Alkaline phosphatase, placental type 250 reviewed Enzyme
P06276 BXGT006430 Cholinesterase 590 reviewed
P06744 BXGT006494 Glucose-6-phosphate isomerase 2821 reviewed Enzyme
P07741 BXGT006666 Adenine phosphoribosyltransferase 353 reviewed
P08185 BXGT006742 Corticosteroid-binding globulin 866 reviewed Enzyme modulator
P09923 BXGT006942 Intestinal-type alkaline phosphatase 248 reviewed Enzyme
P10997 BXGT007643 Islet amyloid polypeptide 3375 reviewed Signaling
P14410 BXGT008009 Sucrase-isomaltase, intestinal 6476 reviewed Enzyme
P15121 BXGT008083 Aldo-keto reductase family 1 member B1 231 reviewed Enzyme
P15291 BXGT008103 Beta-1,4-galactosyltransferase 1 2683 reviewed Enzyme
P20933 BXGT008618 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase 175 reviewed Enzyme
P24593 BXGT008979 Insulin-like growth factor-binding protein 5 3488 reviewed Enzyme modulator
P32322 BXGT009624 Pyrroline-5-carboxylate reductase 1, mitochondrial 5831 reviewed
P34949 BXGT009775 Mannose-6-phosphate isomerase 4351 reviewed Enzyme
P36871 BXGT009936 Phosphoglucomutase-1 5236 reviewed
P62820 BXGT011461 Ras-related protein Rab-1A 5861 reviewed
Q08722 BXGT013002 Leukocyte surface antigen CD47 961 reviewed
Q10469 BXGT013200 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 4247 reviewed Enzyme
Q11203 BXGT013218 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase 6487 reviewed
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q8TCU5 BXGT018802 Glutamate receptor ionotropic, NMDA 3A 116443 reviewed Ion channel
Q9H3H5 BXGT020461 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1798 reviewed Enzyme
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9Y2G5 BXGT022232 GDP-fucose protein O-fucosyltransferase 2 23275 reviewed Enzyme
P00738 BXGT022874 Haptoglobin 3240 reviewed Enzyme
P09622 BXGT023116 Dihydrolipoyl dehydrogenase, mitochondrial 1738 reviewed Enzyme
P46977 BXGT025531 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A 3703 reviewed Enzyme
Q8TCJ2 BXGT025533 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B 201595 reviewed Enzyme
Q9BYC5 BXGT025656 Alpha-(1,6)-fucosyltransferase 2530 reviewed
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
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