Showing entry for Creatine deficiency, X-linked



                               
General Disease Information
BXGD IdBXGD014762
Disease NameCreatine deficiency, X-linked
Disease CUI IdC1845862
MeSH Codes C16   C18   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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
P27797 BXGT009206 Calreticulin 811 reviewed Calcium-binding protein
P30988 BXGT009491 Calcitonin receptor 799 reviewed G-protein coupled receptor
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P50440 BXGT010798 Glycine amidinotransferase, mitochondrial 2628 reviewed
P51572 BXGT010859 B-cell receptor-associated protein 31 10134 reviewed Transporter
Q14353 BXGT013463 Guanidinoacetate N-methyltransferase 2593 reviewed
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
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