Showing entry for EAR, PATELLA, SHORT STATURE SYNDROME


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD016527
Disease NameEAR, PATELLA, SHORT STATURE SYNDROME
Disease CUI IdC1868684
MeSH Codes C23   C16   C05   C07   C09  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:225  
Disease Ontology Class Namegenetic disease; syndrome
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
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O43929 BXGT004638 Origin recognition complex subunit 4 5000 reviewed Nucleic acid binding
O75496 BXGT005132 Geminin 51053 reviewed
O96017 BXGT005415 Serine/threonine-protein kinase Chk2 11200 reviewed Kinase
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02753 BXGT005945 Retinol-binding protein 4 5950 reviewed Transporter
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P06729 BXGT006486 T-cell surface antigen CD2 914 reviewed
P09466 BXGT006892 Glycodelin 5047 reviewed Enzyme
P10635 BXGT007595 Cytochrome P450 2D6 1565 reviewed
P14416 BXGT008011 D(2) dopamine receptor 1813 reviewed G-protein coupled receptor
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P17252 BXGT008294 Protein kinase C alpha type 5578 reviewed Kinase
P21579 BXGT008665 Synaptotagmin-1 6857 reviewed Transporter
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P22612 BXGT008785 cAMP-dependent protein kinase catalytic subunit gamma 5568 reviewed Kinase
P27338 BXGT009172 Amine oxidase [flavin-containing] B 4129 reviewed
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28223 BXGT009239 5-hydroxytryptamine receptor 2A 3356 reviewed G-protein coupled receptor
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P35228 BXGT009800 Nitric oxide synthase, inducible 4843 reviewed
P35462 BXGT009835 D(3) dopamine receptor 1814 reviewed G-protein coupled receptor
P35579 BXGT009852 Myosin-9 4627 reviewed
P35613 BXGT009856 Basigin 682 reviewed
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P47712 BXGT010577 Cytosolic phospholipase A2 5321 reviewed Enzyme
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49327 BXGT010694 Fatty acid synthase 2194 reviewed Enzyme
P49768 BXGT010740 Presenilin-1 5663 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P61626 BXGT011382 Lysozyme C 4069 reviewed
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
Q01959 BXGT012624 Sodium-dependent dopamine transporter 6531 reviewed Transporter
Q04206 BXGT012754 Transcription factor p65 5970 reviewed Transcription factor
Q05940 BXGT012846 Synaptic vesicular amine transporter 6571 reviewed Transporter
Q08050 BXGT012958 Forkhead box protein M1 2305 reviewed
Q12797 BXGT013266 Aspartyl/asparaginyl beta-hydroxylase 444 reviewed
Q13003 BXGT013304 Glutamate receptor ionotropic, kainate 3 2899 reviewed Ion channel
Q13415 BXGT013350 Origin recognition complex subunit 1 4998 reviewed Nucleic acid binding
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q9H4A3 BXGT020473 Serine/threonine-protein kinase WNK1 65125 reviewed Kinase
Q9BQQ3 BXGT024065 Golgi reassembly-stacking protein 1 64689 reviewed
Q08477 BXGT026164 Docosahexaenoic acid omega-hydroxylase CYP4F3 4051 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