Showing entry for Distal Muscular Dystrophies


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010392
Disease NameDistal Muscular Dystrophies
Disease CUI IdC0751336
MeSH Codes C16   C05   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; 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
O00443 BXGT003920 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 5286 reviewed Kinase
O75112 BXGT005099 LIM domain-binding protein 3 11155 reviewed Cellular structure
O75923 BXGT005166 Dysferlin 8291 reviewed Transporter
P02511 BXGT005885 Alpha-crystallin B chain 1410 reviewed
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P68133 BXGT011578 Actin, alpha skeletal muscle 58 reviewed Cellular structure
Q13501 BXGT013365 Sequestosome-1 8878 reviewed
Q14126 BXGT013446 Desmoglein-2 1829 reviewed Cell adhesion
Q14315 BXGT013460 Filamin-C 2318 reviewed
Q5VST9 BXGT015886 Obscurin 84033 reviewed Kinase
Q8N142 BXGT018495 Adenylosuccinate synthetase isozyme 1 122622 reviewed Enzyme
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q9Y223 BXGT022207 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 10020 reviewed Enzyme
Q9BT73 BXGT024528 Proteasome assembly chaperone 3 84262 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