Showing entry for ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD014705
Disease NameALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
Disease CUI IdC1845055
MeSH Codes C16   C10   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous 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
O00255 BXGT003903 Menin 4221 reviewed
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O75874 BXGT005157 Isocitrate dehydrogenase [NADP] cytoplasmic 3417 reviewed
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01574 BXGT005768 Interferon beta 3456 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P48735 BXGT010657 Isocitrate dehydrogenase [NADP], mitochondrial 3418 reviewed
P49959 BXGT010766 Double-strand break repair protein MRE11 4361 reviewed
P51531 BXGT010851 Probable global transcription activator SNF2L2 6595 reviewed Epigenetic regulator
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P84243 BXGT012052 Histone H3.3 3021 reviewed
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q99720 BXGT019955 Sigma non-opioid intracellular receptor 1 10280 reviewed
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UBB5 BXGT021649 Methyl-CpG-binding domain protein 2 8932 reviewed Epigenetic regulator
Q9UER7 BXGT021672 Death domain-associated protein 6 1616 reviewed
Q9UM73 BXGT021773 ALK tyrosine kinase receptor 238 reviewed Kinase
P29590 BXGT024350 Protein PML 5371 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
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