Showing entry for Kaufman-McKusick syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD011531
Disease NameKaufman-McKusick syndrome
Disease CUI IdC0948368
MeSH Codes C16   C13   C05   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic disease
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
P07550 BXGT006636 Beta-2 adrenergic receptor 154 reviewed G-protein coupled receptor
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P33032 BXGT009689 Melanocortin receptor 5 4161 reviewed G-protein coupled receptor
P48357 BXGT010627 Leptin receptor 3953 reviewed Signaling
P78504 BXGT011844 Protein jagged-1 182 reviewed
Q9UNE7 BXGT025000 E3 ubiquitin-protein ligase CHIP 10273 reviewed
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