Showing entry for Chediak-Higashi Syndrome



                               
General Disease Information
BXGD IdBXGD000508
Disease NameChediak-Higashi Syndrome
Disease CUI IdC0007965
MeSH Codes C16   C11   C20   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic 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
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O60603 BXGT004887 Toll-like receptor 2 7097 reviewed
O75874 BXGT005157 Isocitrate dehydrogenase [NADP] cytoplasmic 3417 reviewed
P04155 BXGT006155 Trefoil factor 1 7031 reviewed Signaling
P05164 BXGT006333 Myeloperoxidase 4353 reviewed Enzyme
P08758 BXGT006821 Annexin A5 308 reviewed
P13497 BXGT007915 Bone morphogenetic protein 1 649 reviewed
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P48735 BXGT010657 Isocitrate dehydrogenase [NADP], mitochondrial 3418 reviewed
P50747 BXGT010817 Biotin--protein ligase 3141 reviewed Enzyme
P51149 BXGT010835 Ras-related protein Rab-7a 7879 reviewed
P51151 BXGT010837 Ras-related protein Rab-9A 9367 reviewed
P54646 BXGT011062 5'-AMP-activated protein kinase catalytic subunit alpha-2 5563 reviewed Kinase
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P78325 BXGT011832 Disintegrin and metalloproteinase domain-containing protein 8 101 reviewed Enzyme
P99999 BXGT012235 Cytochrome c 54205 reviewed
Q13131 BXGT013314 5'-AMP-activated protein kinase catalytic subunit alpha-1 5562 reviewed Kinase
Q16873 BXGT013684 Leukotriene C4 synthase 4056 reviewed Enzyme
Q9Y478 BXGT022271 5'-AMP-activated protein kinase subunit beta-1 5564 reviewed Kinase
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