Showing entry for Muscular Dystrophy


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001942
Disease NameMuscular Dystrophy
Disease CUI IdC0026850
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:0003011  
Human Phenotype Ontology TermAbnormality of the musculature
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
A4D126 BXGT001208 D-ribitol-5-phosphate cytidylyltransferase 729920 reviewed
O00443 BXGT003920 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 5286 reviewed Kinase
O00755 BXGT003945 Protein Wnt-7a 7476 reviewed Signaling
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
O14788 BXGT004100 Tumor necrosis factor ligand superfamily member 11 8600 reviewed Signaling
O15118 BXGT004127 NPC intracellular cholesterol transporter 1 4864 reviewed Transporter
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O43451 BXGT004594 Maltase-glucoamylase, intestinal 8972 reviewed Enzyme
O43683 BXGT004614 Mitotic checkpoint serine/threonine-protein kinase BUB1 699 reviewed Kinase
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O60760 BXGT004899 Hematopoietic prostaglandin D synthase 27306 reviewed
O75112 BXGT005099 LIM domain-binding protein 3 11155 reviewed Cellular structure
O75923 BXGT005166 Dysferlin 8291 reviewed Transporter
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00750 BXGT005642 Tissue-type plasminogen activator 5327 reviewed Enzyme
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02144 BXGT005853 Myoglobin 4151 reviewed
P02462 BXGT005881 Collagen alpha-1(IV) chain 1282 reviewed
P02511 BXGT005885 Alpha-crystallin B chain 1410 reviewed
P02533 BXGT005887 Keratin, type I cytoskeletal 14 3861 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P04035 BXGT006129 3-hydroxy-3-methylglutaryl-coenzyme A reductase 3156 reviewed
P04083 BXGT006147 Annexin A1 301 reviewed
P04271 BXGT006177 Protein S100-B 6285 reviewed Calcium-binding protein
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06276 BXGT006430 Cholinesterase 590 reviewed
P06733 BXGT006490 Alpha-enolase 2023 reviewed Enzyme
P07355 BXGT006609 Annexin A2 302 reviewed
P07741 BXGT006666 Adenine phosphoribosyltransferase 353 reviewed
P08034 BXGT006716 Gap junction beta-1 protein 2705 reviewed Cell-cell junction
P08133 BXGT006727 Annexin A6 309 reviewed
P08235 BXGT006751 Mineralocorticoid receptor 4306 reviewed Nuclear receptor
P08922 BXGT006843 Proto-oncogene tyrosine-protein kinase ROS 6098 reviewed Kinase
P09238 BXGT006875 Stromelysin-2 4319 reviewed Enzyme
P09651 BXGT006913 Heterogeneous nuclear ribonucleoprotein A1 3178 reviewed
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P11142 BXGT007658 Heat shock cognate 71 kDa protein 3312 reviewed
P11226 BXGT007675 Mannose-binding protein C 4153 reviewed Receptor
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13727 BXGT007951 Bone marrow proteoglycan 5553 reviewed Enzyme modulator
P14410 BXGT008009 Sucrase-isomaltase, intestinal 6476 reviewed Enzyme
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P14784 BXGT008054 Interleukin-2 receptor subunit beta 3560 reviewed Receptor
P15144 BXGT008087 Aminopeptidase N 290 reviewed Enzyme
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P17931 BXGT008356 Galectin-3 3958 reviewed Signaling
P19883 BXGT008528 Follistatin 10468 reviewed Enzyme modulator
P20807 BXGT008601 Calpain-3 825 reviewed Enzyme
P21583 BXGT008667 Kit ligand 4254 reviewed
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P22626 BXGT008787 Heterogeneous nuclear ribonucleoproteins A2/B1 3181 reviewed
P22894 BXGT008815 Neutrophil collagenase 4317 reviewed Enzyme
P23526 BXGT008878 Adenosylhomocysteinase 191 reviewed Enzyme
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P25440 BXGT009044 Bromodomain-containing protein 2 6046 reviewed Epigenetic regulator
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P29218 BXGT009322 Inositol monophosphatase 1 3612 reviewed Enzyme
P30405 BXGT009423 Peptidyl-prolyl cis-trans isomerase F, mitochondrial 10105 reviewed
P32019 BXGT009595 Type II inositol 1,4,5-trisphosphate 5-phosphatase 3633 reviewed Enzyme
P35573 BXGT009850 Glycogen debranching enzyme 178 reviewed Enzyme
P35790 BXGT009866 Choline kinase alpha 1119 reviewed Kinase
P41597 BXGT010268 C-C chemokine receptor type 2 729230 reviewed
P46939 BXGT010555 Utrophin 7402 reviewed
P48735 BXGT010657 Isocitrate dehydrogenase [NADP], mitochondrial 3418 reviewed
P51843 BXGT010897 Nuclear receptor subfamily 0 group B member 1 190 reviewed Nuclear receptor
P52564 BXGT010932 Dual specificity mitogen-activated protein kinase kinase 6 5608 reviewed Kinase
P55040 BXGT011099 GTP-binding protein GEM 2669 reviewed
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P78352 BXGT011836 Disks large homolog 4 1742 reviewed Receptor
P78504 BXGT011844 Protein jagged-1 182 reviewed
P80188 BXGT011882 Neutrophil gelatinase-associated lipocalin 3934 reviewed Enzyme
P81172 BXGT011935 Hepcidin 57817 reviewed
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
Q03181 BXGT012701 Peroxisome proliferator-activated receptor delta 5467 reviewed Nuclear receptor
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q07820 BXGT012942 Induced myeloid leukemia cell differentiation protein Mcl-1 4170 reviewed Signaling
Q09013 BXGT013023 Myotonin-protein kinase 1760 reviewed Kinase
Q13586 BXGT013380 Stromal interaction molecule 1 6786 reviewed
Q13705 BXGT013393 Activin receptor type-2B 93 reviewed Kinase
Q14118 BXGT013444 Dystroglycan 1605 reviewed Receptor
Q14315 BXGT013460 Filamin-C 2318 reviewed
Q14573 BXGT013486 Inositol 1,4,5-trisphosphate receptor type 3 3710 reviewed Ion channel
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q15149 BXGT013547 Plectin 5339 reviewed Cellular structure
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q16512 BXGT013631 Serine/threonine-protein kinase N1 5585 reviewed Kinase
Q16828 BXGT013676 Dual specificity protein phosphatase 6 1848 reviewed
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q5VST9 BXGT015886 Obscurin 84033 reviewed Kinase
Q6P589 BXGT016452 Tumor necrosis factor alpha-induced protein 8-like protein 2 79626 reviewed
Q8NBL1 BXGT018539 Protein O-glucosyltransferase 1 56983 reviewed
Q8NBP7 BXGT018541 Proprotein convertase subtilisin/kexin type 9 255738 reviewed Enzyme
Q8WTS6 BXGT018986 Histone-lysine N-methyltransferase SETD7 80854 reviewed Epigenetic regulator
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q92731 BXGT019366 Estrogen receptor beta 2100 reviewed Nuclear receptor
Q969Q1 BXGT019610 E3 ubiquitin-protein ligase TRIM63 84676 reviewed
Q96D31 BXGT019635 Calcium release-activated calcium channel protein 1 84876 reviewed Ion channel
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99572 BXGT019935 P2X purinoceptor 7 5027 reviewed Ion channel
Q9NW15 BXGT021229 Anoctamin-10 55129 reviewed
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UKV0 BXGT021750 Histone deacetylase 9 9734 reviewed Epigenetic regulator
Q9Y259 BXGT022219 Choline/ethanolamine kinase 1120 reviewed Kinase
Q9Y5L0 BXGT022296 Transportin-3 23534 reviewed Transporter
Q9Y5S1 BXGT022300 Transient receptor potential cation channel subfamily V member 2 51393 reviewed Ion channel
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q9Y6W6 BXGT022342 Dual specificity protein phosphatase 10 11221 reviewed
P00738 BXGT022874 Haptoglobin 3240 reviewed Enzyme
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
Q9NZM1 BXGT023948 Myoferlin 26509 reviewed Transporter
Q9H0M0 BXGT024419 NEDD4-like E3 ubiquitin-protein ligase WWP1 11059 reviewed Enzyme
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
A6NHR9 BXGT024875 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 23347 reviewed
O94901 BXGT025393 SUN domain-containing protein 1 23353 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