Showing entry for Myasthenic Syndromes, Congenital


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010626
Disease NameMyasthenic Syndromes, Congenital
Disease CUI IdC0751882
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: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
O15146 BXGT004131 Muscle, skeletal receptor tyrosine-protein kinase 4593 reviewed Kinase
O15230 BXGT004138 Laminin subunit alpha-5 3911 reviewed Enzyme modulator
P02708 BXGT005927 Acetylcholine receptor subunit alpha 1134 reviewed Ion channel
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P06276 BXGT006430 Cholinesterase 590 reviewed
P06753 BXGT006498 Tropomyosin alpha-3 chain 7170 reviewed Cellular structure
P07510 BXGT006631 Acetylcholine receptor subunit gamma 1146 reviewed Ion channel
P08138 BXGT006729 Tumor necrosis factor receptor superfamily member 16 4804 reviewed Receptor
P11230 BXGT007677 Acetylcholine receptor subunit beta 1140 reviewed Ion channel
P21860 BXGT008698 Receptor tyrosine-protein kinase erbB-3 2065 reviewed Kinase
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P28329 BXGT009251 Choline O-acetyltransferase 1103 reviewed Enzyme
P31943 BXGT009587 Heterogeneous nuclear ribonucleoprotein H 3187 reviewed Nucleic acid binding
P35499 BXGT009839 Sodium channel protein type 4 subunit alpha 6329 reviewed Ion channel
P46939 BXGT010555 Utrophin 7402 reviewed
P55072 BXGT011103 Transitional endoplasmic reticulum ATPase 7415 reviewed
P60880 BXGT011335 Synaptosomal-associated protein 25 6616 reviewed Transporter
Q04844 BXGT012789 Acetylcholine receptor subunit epsilon 1145 reviewed Ion channel
Q06210 BXGT012864 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 2673 reviewed Enzyme
Q07001 BXGT012907 Acetylcholine receptor subunit delta 1144 reviewed Ion channel
Q07955 BXGT012951 Serine/arginine-rich splicing factor 1 6426 reviewed Nucleic acid binding
Q15149 BXGT013547 Plectin 5339 reviewed Cellular structure
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q9BX59 BXGT020157 Tapasin-related protein 55080 reviewed Receptor
Q9GZV3 BXGT020427 High affinity choline transporter 1 60482 reviewed Transporter
Q9H3H5 BXGT020461 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1798 reviewed Enzyme
Q9P2W7 BXGT021306 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 27087 reviewed Enzyme
Q9UPN3 BXGT021797 Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 23499 reviewed Cellular structure
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