Showing entry for Multiple Epiphyseal Dysplasia



                               
General Disease Information
BXGD IdBXGD001927
Disease NameMultiple Epiphyseal Dysplasia
Disease CUI IdC0026760
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000924  
Human Phenotype Ontology TermAbnormality of the skeletal system
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
O14832 BXGT004104 Phytanoyl-CoA dioxygenase, peroxisomal 5264 reviewed
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11021 BXGT007644 Endoplasmic reticulum chaperone BiP 3309 reviewed
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P17861 BXGT008348 X-box-binding protein 1 7494 reviewed
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P21333 BXGT008638 Filamin-A 2316 reviewed
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P49747 BXGT010732 Cartilage oligomeric matrix protein 1311 reviewed
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q8WVQ1 BXGT018996 Soluble calcium-activated nucleotidase 1 124583 reviewed
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
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