Showing entry for Saethre-Chotzen Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD004005
Disease NameSaethre-Chotzen Syndrome
Disease CUI IdC0175699
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome
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
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
P02818 BXGT005969 Osteocalcin 632 reviewed
P08922 BXGT006843 Proto-oncogene tyrosine-protein kinase ROS 6098 reviewed Kinase
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
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
P42575 BXGT010318 Caspase-2 835 reviewed Enzyme
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P55211 BXGT011111 Caspase-9 842 reviewed Enzyme
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q86V24 BXGT017615 Adiponectin receptor protein 2 79602 reviewed Receptor
Q9UKV0 BXGT021750 Histone deacetylase 9 9734 reviewed Epigenetic regulator
Q96A54 BXGT024681 Adiponectin receptor protein 1 51094 reviewed Receptor
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