Showing entry for Muscular Dystrophies, Limb-Girdle


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD009833
Disease NameMuscular Dystrophies, Limb-Girdle
Disease CUI IdC0686353
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 HP:0040064   HP:0003011  
Human Phenotype Ontology TermAbnormality of limbs; Abnormality of the musculature
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
A4D126 BXGT001208 D-ribitol-5-phosphate cytidylyltransferase 729920 reviewed
O15178 BXGT004135 T-box transcription factor T 6862 reviewed Transcription factor
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O60885 BXGT004906 Bromodomain-containing protein 4 23476 reviewed Epigenetic regulator
O60931 BXGT004911 Cystinosin 1497 reviewed
O75129 BXGT005101 Astrotactin-2 23245 reviewed
O75147 BXGT005102 Obscurin-like protein 1 23363 reviewed
O75923 BXGT005166 Dysferlin 8291 reviewed Transporter
P01019 BXGT005717 Angiotensinogen 183 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P09651 BXGT006913 Heterogeneous nuclear ribonucleoprotein A1 3178 reviewed
P11217 BXGT007674 Glycogen phosphorylase, muscle form 5837 reviewed Enzyme
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P19883 BXGT008528 Follistatin 10468 reviewed Enzyme modulator
P20807 BXGT008601 Calpain-3 825 reviewed Enzyme
P22626 BXGT008787 Heterogeneous nuclear ribonucleoproteins A2/B1 3181 reviewed
P34932 BXGT009772 Heat shock 70 kDa protein 4 3308 reviewed
P46939 BXGT010555 Utrophin 7402 reviewed
P51159 BXGT010839 Ras-related protein Rab-27A 5873 reviewed
P51572 BXGT010859 B-cell receptor-associated protein 31 10134 reviewed Transporter
P55072 BXGT011103 Transitional endoplasmic reticulum ATPase 7415 reviewed
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P68133 BXGT011578 Actin, alpha skeletal muscle 58 reviewed Cellular structure
Q07837 BXGT012943 Neutral and basic amino acid transport protein rBAT 6519 reviewed Transporter
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q13418 BXGT013351 Integrin-linked protein kinase 3611 reviewed Kinase
Q14103 BXGT013439 Heterogeneous nuclear ribonucleoprotein D0 3184 reviewed
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q14203 BXGT013455 Dynactin subunit 1 1639 reviewed Chaperone
Q14315 BXGT013460 Filamin-C 2318 reviewed
Q15149 BXGT013547 Plectin 5339 reviewed Cellular structure
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q8NBL1 BXGT018539 Protein O-glucosyltransferase 1 56983 reviewed
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q9BX66 BXGT020158 Sorbin and SH3 domain-containing protein 1 10580 reviewed
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
Q9UIQ6 BXGT021721 Leucyl-cystinyl aminopeptidase 4012 reviewed Enzyme
Q9Y223 BXGT022207 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 10020 reviewed Enzyme
Q9Y5L0 BXGT022296 Transportin-3 23534 reviewed Transporter
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
Q9NZM1 BXGT023948 Myoferlin 26509 reviewed Transporter
Q9H9S5 BXGT024623 Fukutin-related protein 79147 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