Showing entry for Smith-Magenis syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010754
Disease NameSmith-Magenis syndrome
Disease CUI IdC0795864
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   DOID:225  
Disease Ontology Class Namegenetic disease; syndrome
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
O75628 BXGT005140 GTP-binding protein REM 1 28954 reviewed
O95786 BXGT005396 Probable ATP-dependent RNA helicase DDX58 23586 reviewed
P01308 BXGT005749 Insulin 3630 reviewed
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P08842 BXGT006830 Steryl-sulfatase 412 reviewed Enzyme
P10276 BXGT007553 Retinoic acid receptor alpha 5914 reviewed Nuclear receptor
P13489 BXGT007913 Ribonuclease inhibitor 6050 reviewed Transcription factor
P36956 BXGT009947 Sterol regulatory element-binding protein 1 6720 reviewed
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P52788 BXGT010953 Spermine synthase 6611 reviewed
P56524 BXGT011176 Histone deacetylase 4 9759 reviewed Epigenetic regulator
P60903 BXGT011339 Protein S100-A10 6281 reviewed Calcium-binding protein
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q05329 BXGT012814 Glutamate decarboxylase 2 2572 reviewed Enzyme
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q5VZ30 BXGT015894 Glutamate decarboxylase 2 (Pancreatic islets and brain, 65kDa) 2572 unreviewed
Q8NFP7 BXGT018562 Diphosphoinositol polyphosphate phosphohydrolase 3-alpha 170685 reviewed Enzyme
Q8WWY3 BXGT019006 U4/U6 small nuclear ribonucleoprotein Prp31 26121 reviewed Nucleic acid binding
Q9NPB1 BXGT021149 5'(3')-deoxyribonucleotidase, mitochondrial 56953 reviewed
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