Showing entry for Sitosterolemia



                               
General Disease Information
BXGD IdBXGD007581
Disease NameSitosterolemia
Disease CUI IdC0342907
MeSH Codes C16   C06   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
Semantic TypeCongenital Abnormality
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
O95477 BXGT005383 Phospholipid-transporting ATPase ABCA1 19 reviewed Transporter
P04035 BXGT006129 3-hydroxy-3-methylglutaryl-coenzyme A reductase 3156 reviewed
P36956 BXGT009947 Sterol regulatory element-binding protein 1 6720 reviewed
Q12772 BXGT013262 Sterol regulatory element-binding protein 2 6721 reviewed
Q8NBP7 BXGT018541 Proprotein convertase subtilisin/kexin type 9 255738 reviewed Enzyme
Q9UHC9 BXGT021696 NPC1-like intracellular cholesterol transporter 1 29881 reviewed Transporter
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
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