Showing entry for Coffin-Lowry syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005483
Disease NameCoffin-Lowry syndrome
Disease CUI IdC0265252
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
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P08559 BXGT006788 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 5160 reviewed
P16220 BXGT008206 Cyclic AMP-responsive element-binding protein 1 1385 reviewed
P24530 BXGT008975 Endothelin receptor type B 1910 reviewed G-protein coupled receptor
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P62753 BXGT011454 40S ribosomal protein S6 6194 reviewed Nucleic acid binding
Q00613 BXGT012540 Heat shock factor protein 1 3297 reviewed Transcription factor
Q14191 BXGT013452 Werner syndrome ATP-dependent helicase 7486 reviewed Enzyme
Q92796 BXGT019376 Disks large homolog 3 1741 reviewed
Q9NZN1 BXGT021279 Interleukin-1 receptor accessory protein-like 1 11141 reviewed Receptor
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