Showing entry for Skeletal dysplasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008430
Disease NameSkeletal dysplasia
Disease CUI IdC0410528
MeSH Codes C16  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id   
Disease Ontology Class Name
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00238 BXGT003900 Bone morphogenetic protein receptor type-1B 658 reviewed Kinase
O14832 BXGT004104 Phytanoyl-CoA dioxygenase, peroxisomal 5264 reviewed
O43914 BXGT004635 TYRO protein tyrosine kinase-binding protein 7305 reviewed
O60706 BXGT004896 ATP-binding cassette sub-family C member 9 10060 reviewed Transporter
O75369 BXGT005119 Filamin-B 2317 reviewed
O94766 BXGT005330 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 26229 reviewed Enzyme
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02724 BXGT005934 Glycophorin-A 2993 reviewed
P04629 BXGT006239 High affinity nerve growth factor receptor 4914 reviewed Kinase
P05186 BXGT006338 Alkaline phosphatase, tissue-nonspecific isozyme 249 reviewed Enzyme
P07237 BXGT006576 Protein disulfide-isomerase 5034 reviewed
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P10619 BXGT007589 Lysosomal protective protein 5476 reviewed Enzyme
P10644 BXGT007597 cAMP-dependent protein kinase type I-alpha regulatory subunit 5573 reviewed
P10827 BXGT007623 Thyroid hormone receptor alpha 7067 reviewed Nuclear receptor
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P18848 BXGT008432 Cyclic AMP-dependent transcription factor ATF-4 468 reviewed
P19883 BXGT008528 Follistatin 10468 reviewed Enzyme modulator
P21333 BXGT008638 Filamin-A 2316 reviewed
P22223 BXGT008744 Cadherin-3 1001 reviewed
P22413 BXGT008764 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 5167 reviewed Enzyme
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P34059 BXGT009749 N-acetylgalactosamine-6-sulfatase 2588 reviewed Enzyme
P35475 BXGT009837 Alpha-L-iduronidase 3425 reviewed Enzyme
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P42224 BXGT010286 Signal transducer and activator of transcription 1-alpha/beta 6772 reviewed Nucleic acid binding
P42702 BXGT010335 Leukemia inhibitory factor receptor 3977 reviewed Signaling
P43026 BXGT010351 Growth/differentiation factor 5 8200 reviewed Signaling
P43235 BXGT010368 Cathepsin K 1513 reviewed Enzyme
P49747 BXGT010732 Cartilage oligomeric matrix protein 1311 reviewed
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P54802 BXGT011081 Alpha-N-acetylglucosaminidase 4669 reviewed
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
P68871 BXGT011615 Hemoglobin subunit beta 3043 reviewed
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q01974 BXGT012628 Tyrosine-protein kinase transmembrane receptor ROR2 4920 reviewed Kinase
Q03431 BXGT012714 Parathyroid hormone/parathyroid hormone-related peptide receptor 5745 reviewed G-protein coupled receptor
Q03692 BXGT012735 Collagen alpha-1(X) chain 1300 reviewed Extracellular structure
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q04771 BXGT012783 Activin receptor type-1 90 reviewed Kinase
Q08499 BXGT012988 cAMP-specific 3',5'-cyclic phosphodiesterase 4D 5144 reviewed
Q14332 BXGT013462 Frizzled-2 2535 reviewed G-protein coupled receptor
Q14623 BXGT013490 Indian hedgehog protein 3549 reviewed
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q15842 BXGT013607 ATP-sensitive inward rectifier potassium channel 8 3764 reviewed Ion channel
Q16828 BXGT013676 Dual specificity protein phosphatase 6 1848 reviewed
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 reviewed
Q99519 BXGT019928 Sialidase-1 4758 reviewed Enzyme
Q9H9B1 BXGT020501 Histone-lysine N-methyltransferase EHMT1 79813 reviewed Epigenetic regulator
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9NSE4 BXGT021207 Isoleucine--tRNA ligase, mitochondrial 55699 reviewed Enzyme
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9UBV7 BXGT021665 Beta-1,4-galactosyltransferase 7 11285 reviewed
P43146 BXGT022852 Netrin receptor DCC 1630 reviewed
P08123 BXGT024477 Collagen alpha-2(I) chain 1278 reviewed
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 reviewed
Q14807 BXGT024966 Kinesin-like protein KIF22 3835 reviewed Cellular structure
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