Showing entry for Deficiency of mevalonate kinase



                               
General Disease Information
BXGD IdBXGD007535
Disease NameDeficiency of mevalonate kinase
Disease CUI IdC0342731
MeSH Codes C16   C18   C20   C10   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630   DOID:7  
Disease Ontology Class Namedisease of metabolism; genetic 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
O15553 BXGT004181 Pyrin 4210 reviewed
O43424 BXGT004592 Glutamate receptor ionotropic, delta-2 2895 reviewed Ion channel
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P04035 BXGT006129 3-hydroxy-3-methylglutaryl-coenzyme A reductase 3156 reviewed
P19438 BXGT008480 Tumor necrosis factor receptor superfamily member 1A 7132 reviewed
P37268 BXGT009975 Squalene synthase 2222 reviewed
P61586 BXGT011375 Transforming protein RhoA 387 reviewed Enzyme modulator
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
Q15126 BXGT013544 Phosphomevalonate kinase 10654 reviewed
Q96EY8 BXGT019655 Corrinoid adenosyltransferase 326625 reviewed Enzyme
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 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