Showing entry for Osteogenesis Imperfecta


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002146
Disease NameOsteogenesis Imperfecta
Disease CUI IdC0029434
MeSH Codes C16   C17   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome; Congenital Abnormality
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
O00469 BXGT003926 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 5352 reviewed Enzyme
O00522 BXGT003935 Krev interaction trapped protein 1 889 reviewed
O14788 BXGT004100 Tumor necrosis factor ligand superfamily member 11 8600 reviewed Signaling
O43897 BXGT004633 Tolloid-like protein 1 7092 reviewed
O75581 BXGT005136 Low-density lipoprotein receptor-related protein 6 4040 reviewed
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02818 BXGT005969 Osteocalcin 632 reviewed
P05186 BXGT006338 Alkaline phosphatase, tissue-nonspecific isozyme 249 reviewed Enzyme
P07237 BXGT006576 Protein disulfide-isomerase 5034 reviewed
P07998 BXGT006711 Ribonuclease pancreatic 6035 reviewed
P09486 BXGT006897 SPARC 6678 reviewed Signaling
P13497 BXGT007915 Bone morphogenetic protein 1 649 reviewed
P16070 BXGT008186 CD44 antigen 960 reviewed
P16473 BXGT008234 Thyrotropin receptor 7253 reviewed G-protein coupled receptor
P20309 BXGT008562 Muscarinic acetylcholine receptor M3 1131 reviewed G-protein coupled receptor
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P23284 BXGT008845 Peptidyl-prolyl cis-trans isomerase B 5479 reviewed
P23975 BXGT008935 Sodium-dependent noradrenaline transporter 6530 reviewed Transporter
P28300 BXGT009243 Protein-lysine 6-oxidase 4015 reviewed
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P30536 BXGT009435 Translocator protein 706 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P36955 BXGT009946 Pigment epithelium-derived factor 5176 reviewed Enzyme modulator
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13705 BXGT013393 Activin receptor type-2B 93 reviewed Kinase
Q14032 BXGT013438 Bile acid-CoA:amino acid N-acyltransferase 570 reviewed
Q32P28 BXGT014324 Prolyl 3-hydroxylase 1 64175 reviewed Extracellular structure
Q9NY59 BXGT021251 Sphingomyelin phosphodiesterase 3 55512 reviewed
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9ULC6 BXGT021759 Protein-arginine deiminase type-1 29943 reviewed
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
P08123 BXGT024477 Collagen alpha-2(I) chain 1278 reviewed
Q9GZV5 BXGT025439 WW domain-containing transcription regulator protein 1 25937 reviewed Enzyme modulator
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 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