Showing entry for Diastrophic dysplasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD004333
Disease NameDiastrophic dysplasia
Disease CUI IdC0220726
MeSH Codes C16   C05   C19  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
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
O43617 BXGT004607 Trafficking protein particle complex subunit 3 27095 reviewed
O60760 BXGT004899 Hematopoietic prostaglandin D synthase 27306 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04278 BXGT006182 Sex hormone-binding globulin 6462 reviewed
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P09486 BXGT006897 SPARC 6678 reviewed Signaling
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P15559 BXGT008139 NAD(P)H dehydrogenase [quinone] 1 1728 reviewed
P21554 BXGT008662 Cannabinoid receptor 1 1268 reviewed G-protein coupled receptor
P21673 BXGT008676 Diamine acetyltransferase 1 6303 reviewed
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P35858 BXGT009876 Insulin-like growth factor-binding protein complex acid labile subunit 3483 reviewed Receptor
P49747 BXGT010732 Cartilage oligomeric matrix protein 1311 reviewed
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60568 BXGT011315 Interleukin-2 3558 reviewed
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q8TEA8 BXGT018820 D-aminoacyl-tRNA deacylase 1 92675 reviewed Enzyme
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y2Q3 BXGT022242 Glutathione S-transferase kappa 1 373156 reviewed
Q9H2H9 BXGT022646 Sodium-coupled neutral amino acid transporter 1 81539 reviewed Transporter
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