Showing entry for Congenital myopathy (disorder)


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD006141
Disease NameCongenital myopathy (disorder)
Disease CUI IdC0270960
MeSH Codes C05   C10  
Disease Class NameMusculoskeletal Diseases; Nervous System Diseases
Semantic TypeCongenital Abnormality
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
O75844 BXGT005156 CAAX prenyl protease 1 homolog 10269 reviewed Enzyme
O75923 BXGT005166 Dysferlin 8291 reviewed Transporter
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P06753 BXGT006498 Tropomyosin alpha-3 chain 7170 reviewed Cellular structure
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P35499 BXGT009839 Sodium channel protein type 4 subunit alpha 6329 reviewed Ion channel
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P68133 BXGT011578 Actin, alpha skeletal muscle 58 reviewed Cellular structure
Q04446 BXGT012764 1,4-alpha-glucan-branching enzyme 2632 reviewed Enzyme
Q13698 BXGT013392 Voltage-dependent L-type calcium channel subunit alpha-1S 779 reviewed Ion channel
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q14315 BXGT013460 Filamin-C 2318 reviewed
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q9Y259 BXGT022219 Choline/ethanolamine kinase 1120 reviewed Kinase
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
Q96MF2 BXGT025769 SH3 and cysteine-rich domain-containing protein 3 246329 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