Showing entry for Spondyloepiphyseal Dysplasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002726
Disease NameSpondyloepiphyseal Dysplasia
Disease CUI IdC0038015
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0000924  
Human Phenotype Ontology TermAbnormality of the skeletal system
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
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P21333 BXGT008638 Filamin-A 2316 reviewed
P27635 BXGT009194 60S ribosomal protein L10 6134 reviewed Nucleic acid binding
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P43403 BXGT010385 Tyrosine-protein kinase ZAP-70 7535 reviewed Kinase
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q06520 BXGT012880 Bile salt sulfotransferase 6822 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
Q9NSE4 BXGT021207 Isoleucine--tRNA ligase, mitochondrial 55699 reviewed Enzyme
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