Showing entry for Disproportionate short stature


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD011380
Disease NameDisproportionate short stature
Disease CUI IdC0878659
MeSH Codes C16   C05   C19  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Semantic TypeFinding
Human Phenotype Ontology Id HP:0001507  
Human Phenotype Ontology TermGrowth abnormality
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
O00238 BXGT003900 Bone morphogenetic protein receptor type-1B 658 reviewed Kinase
O00755 BXGT003945 Protein Wnt-7a 7476 reviewed Signaling
O75147 BXGT005102 Obscurin-like protein 1 23363 reviewed
O75369 BXGT005119 Filamin-B 2317 reviewed
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P10644 BXGT007597 cAMP-dependent protein kinase type I-alpha regulatory subunit 5573 reviewed
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
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
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P49747 BXGT010732 Cartilage oligomeric matrix protein 1311 reviewed
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 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
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q14623 BXGT013490 Indian hedgehog protein 3549 reviewed
Q15392 BXGT013566 Delta(24)-sterol reductase 1718 reviewed Enzyme
Q16832 BXGT013678 Discoidin domain-containing receptor 2 4921 reviewed Kinase
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q8WVQ1 BXGT018996 Soluble calcium-activated nucleotidase 1 124583 reviewed
Q96PY6 BXGT019712 Serine/threonine-protein kinase Nek1 4750 reviewed Kinase
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9UPZ9 BXGT021804 Serine/threonine-protein kinase ICK 22858 reviewed Kinase
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