Showing entry for DOWN SYNDROME CRITICAL REGION


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015997
Disease NameDOWN SYNDROME CRITICAL REGION
Disease CUI IdC1860787
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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
O14578 BXGT004072 Citron Rho-interacting kinase 11113 reviewed Kinase
O95644 BXGT005389 Nuclear factor of activated T-cells, cytoplasmic 1 4772 reviewed Transcription factor
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P04406 BXGT006207 Glyceraldehyde-3-phosphate dehydrogenase 2597 reviewed Enzyme
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P10636 BXGT007596 Microtubule-associated protein tau 4137 reviewed
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P15036 BXGT008073 Protein C-ets-2 2114 reviewed Transcription factor
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16152 BXGT008201 Carbonyl reductase [NADPH] 1 873 reviewed
P18089 BXGT008379 Alpha-2B adrenergic receptor 151 reviewed G-protein coupled receptor
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P31391 BXGT009535 Somatostatin receptor type 4 6754 reviewed G-protein coupled receptor
P35348 BXGT009814 Alpha-1A adrenergic receptor 148 reviewed G-protein coupled receptor
P39060 BXGT010088 Collagen alpha-1(XVIII) chain 80781 reviewed
P41279 BXGT010254 Mitogen-activated protein kinase kinase kinase 8 1326 reviewed Kinase
P48051 BXGT010611 G protein-activated inward rectifier potassium channel 2 3763 reviewed Ion channel
P48061 BXGT010616 Stromal cell-derived factor 1 6387 reviewed
P49888 BXGT010756 Estrogen sulfotransferase 6783 reviewed
P50747 BXGT010817 Biotin--protein ligase 3141 reviewed Enzyme
P51684 BXGT010880 C-C chemokine receptor type 6 1235 reviewed G-protein coupled receptor
P56817 BXGT011200 Beta-secretase 1 23621 reviewed Enzyme
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q7L576 BXGT016995 Cytoplasmic FMR1-interacting protein 1 23191 reviewed Enzyme modulator
Q9NSI6 BXGT021208 Bromodomain and WD repeat-containing protein 1 54014 reviewed
Q9UPY3 BXGT021802 Endoribonuclease Dicer 23405 reviewed Enzyme
Q9Y233 BXGT022210 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A 10846 reviewed
Q9Y5Z0 BXGT022310 Beta-secretase 2 25825 reviewed Enzyme
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