Showing entry for Mucolipidosis Type IV



                               
General Disease Information
BXGD IdBXGD004904
Disease NameMucolipidosis Type IV
Disease CUI IdC0238286
MeSH Codes C16   C18   C05   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic 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
P06865 BXGT006516 Beta-hexosaminidase subunit alpha 3073 reviewed Enzyme
P10809 BXGT007617 60 kDa heat shock protein, mitochondrial 3329 reviewed
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P29320 BXGT009332 Ephrin type-A receptor 3 2042 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
Q13563 BXGT013377 Polycystin-2 5311 reviewed Ion channel
Q8TDD5 BXGT018809 Mucolipin-3 55283 reviewed Ion channel
Q8IZK6 BXGT024225 Mucolipin-2 255231 reviewed Ion channel
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