Showing entry for CHARGE Syndrome



                               
General Disease Information
BXGD IdBXGD005529
Disease NameCHARGE Syndrome
Disease CUI IdC0265354
MeSH Codes C16   C11  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:225  
Disease Ontology Class Namesyndrome
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
O15353 BXGT004155 Forkhead box protein N1 8456 reviewed
P00367 BXGT005517 Glutamate dehydrogenase 1, mitochondrial 2746 reviewed Enzyme
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05231 BXGT006345 Interleukin-6 3569 reviewed
P25440 BXGT009044 Bromodomain-containing protein 2 6046 reviewed Epigenetic regulator
P35858 BXGT009876 Insulin-like growth factor-binding protein complex acid labile subunit 3483 reviewed Receptor
P51531 BXGT010851 Probable global transcription activator SNF2L2 6595 reviewed Epigenetic regulator
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51843 BXGT010897 Nuclear receptor subfamily 0 group B member 1 190 reviewed Nuclear receptor
P58400 BXGT011235 Neurexin-1-beta 9378 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q6ZQY3 BXGT016636 Acidic amino acid decarboxylase GADL1 339896 reviewed
Q96A70 BXGT019615 Antizyme inhibitor 2 113451 reviewed Enzyme
Q99250 BXGT019913 Sodium channel protein type 2 subunit alpha 6326 reviewed Ion channel
Q9UBB5 BXGT021649 Methyl-CpG-binding domain protein 2 8932 reviewed Epigenetic regulator
P16284 BXGT022972 Platelet endothelial cell adhesion molecule 5175 reviewed Cell adhesion
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