Showing entry for Muscular Dystrophy, Facioscapulohumeral



                               
General Disease Information
BXGD IdBXGD004905
Disease NameMuscular Dystrophy, Facioscapulohumeral
Disease CUI IdC0238288
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: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
O95405 BXGT005379 Zinc finger FYVE domain-containing protein 9 9372 reviewed
P01579 BXGT005770 Interferon gamma 3458 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05187 BXGT006339 Alkaline phosphatase, placental type 250 reviewed Enzyme
P05230 BXGT006344 Fibroblast growth factor 1 2246 reviewed Signaling
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06730 BXGT006487 Eukaryotic translation initiation factor 4E 1977 reviewed Nucleic acid binding
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P0CG29 BXGT007465 Glutathione S-transferase theta-2 2953 reviewed
P0DMV8 BXGT007509 Heat shock 70 kDa protein 1A 3304 reviewed
P0DMV9 BXGT007510 Heat shock 70 kDa protein 1B 3304 reviewed
P12235 BXGT007774 ADP/ATP translocase 1 291 reviewed Transporter
P16070 BXGT008186 CD44 antigen 960 reviewed
P18564 BXGT008414 Integrin beta-6 3694 reviewed Receptor
P19883 BXGT008528 Follistatin 10468 reviewed Enzyme modulator
P20807 BXGT008601 Calpain-3 825 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P21452 BXGT008653 Substance-K receptor 6865 reviewed G-protein coupled receptor
P25440 BXGT009044 Bromodomain-containing protein 2 6046 reviewed Epigenetic regulator
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P34932 BXGT009772 Heat shock 70 kDa protein 4 3308 reviewed
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P51114 BXGT010832 Fragile X mental retardation syndrome-related protein 1 8087 reviewed Nucleic acid binding
P51884 BXGT010903 Lumican 4060 reviewed
P60568 BXGT011315 Interleukin-2 3558 reviewed
P62805 BXGT011457 Histone H4 8370 reviewed
P62937 BXGT011471 Peptidyl-prolyl cis-trans isomerase A 5478 reviewed
P63208 BXGT011507 S-phase kinase-associated protein 1 6500 reviewed Enzyme
P78396 BXGT011842 Cyclin-A1 8900 reviewed Enzyme modulator
P78556 BXGT011849 C-C motif chemokine 20 6364 reviewed Signaling
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q07021 BXGT012915 Complement component 1 Q subcomponent-binding protein, mitochondrial 708 reviewed
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13283 BXGT013334 Ras GTPase-activating protein-binding protein 1 10146 reviewed Nucleic acid binding
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q7L266 BXGT016993 Isoaspartyl peptidase/L-asparaginase 80150 reviewed Enzyme
Q8NBJ7 BXGT018537 Inactive C-alpha-formylglycine-generating enzyme 2 25870 reviewed
Q92731 BXGT019366 Estrogen receptor beta 2100 reviewed Nuclear receptor
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q9H0A0 BXGT020434 RNA cytidine acetyltransferase 55226 reviewed
Q9NWB1 BXGT021231 RNA binding protein fox-1 homolog 1 54715 reviewed Nucleic acid binding
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UIV1 BXGT021722 CCR4-NOT transcription complex subunit 7 29883 reviewed Transcription factor
Q96QD8 BXGT022647 Sodium-coupled neutral amino acid transporter 2 54407 reviewed Transporter
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
A6NHR9 BXGT024875 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 23347 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