Showing entry for Osteoglophonic dwarfism


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008764
Disease NameOsteoglophonic dwarfism
Disease CUI IdC0432283
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital 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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O15123 BXGT004130 Angiopoietin-2 285 reviewed Signaling
O15392 BXGT004162 Baculoviral IAP repeat-containing protein 5 332 reviewed Enzyme modulator
O75385 BXGT005121 Serine/threonine-protein kinase ULK1 8408 reviewed Kinase
O95631 BXGT005387 Netrin-1 9423 reviewed Enzyme modulator
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07355 BXGT006609 Annexin A2 302 reviewed
P07996 BXGT006710 Thrombospondin-1 7057 reviewed
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P09429 BXGT006889 High mobility group protein B1 3146 reviewed Nucleic acid binding
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
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
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P17861 BXGT008348 X-box-binding protein 1 7494 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P29466 BXGT009349 Caspase-1 834 reviewed Enzyme
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P35754 BXGT009863 Glutaredoxin-1 2745 reviewed
P36955 BXGT009946 Pigment epithelium-derived factor 5176 reviewed Enzyme modulator
P41180 BXGT010230 Extracellular calcium-sensing receptor 846 reviewed G-protein coupled receptor
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P43004 BXGT010348 Excitatory amino acid transporter 2 6506 reviewed Transporter
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49767 BXGT010739 Vascular endothelial growth factor C 7424 reviewed Signaling
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P55211 BXGT011111 Caspase-9 842 reviewed Enzyme
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
Q00688 BXGT012544 Peptidyl-prolyl cis-trans isomerase FKBP3 2287 reviewed
Q02363 BXGT012650 DNA-binding protein inhibitor ID-2 3398 reviewed Transcription factor
Q02763 BXGT012667 Angiopoietin-1 receptor 7010 reviewed Kinase
Q12879 BXGT013275 Glutamate receptor ionotropic, NMDA 2A 2903 reviewed Ion channel
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q14289 BXGT013459 Protein-tyrosine kinase 2-beta 2185 reviewed Kinase
Q14457 BXGT013472 Beclin-1 8678 reviewed Enzyme modulator
Q15389 BXGT013564 Angiopoietin-1 284 reviewed Signaling
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q9NRA0 BXGT021183 Sphingosine kinase 2 56848 reviewed Kinase
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