Showing entry for FRAGILE X TREMOR/ATAXIA SYNDROME


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD014405
Disease NameFRAGILE X TREMOR/ATAXIA SYNDROME
Disease CUI IdC1839780
MeSH Codes C23   C16   C10  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, 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:7  
Disease Ontology Class Namegenetic disease; disease of anatomical entity
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
O00142 BXGT003883 Thymidine kinase 2, mitochondrial 7084 reviewed Kinase
O15379 BXGT004159 Histone deacetylase 3 8841 reviewed Epigenetic regulator
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P04054 BXGT006136 Phospholipase A2 5319 reviewed Enzyme
P08670 BXGT006810 Vimentin 7431 reviewed
P11717 BXGT007740 Cation-independent mannose-6-phosphate receptor 3482 reviewed Receptor
P14555 BXGT008020 Phospholipase A2, membrane associated 5320 reviewed Enzyme
P35858 BXGT009876 Insulin-like growth factor-binding protein complex acid labile subunit 3483 reviewed Receptor
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P43003 BXGT010347 Excitatory amino acid transporter 1 6507 reviewed Transporter
P49768 BXGT010740 Presenilin-1 5663 reviewed Enzyme
P62826 BXGT011463 GTP-binding nuclear protein Ran 5901 reviewed Enzyme modulator
P63104 BXGT011499 14-3-3 protein zeta/delta 7534 reviewed Chaperone
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13501 BXGT013365 Sequestosome-1 8878 reviewed
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q9UER7 BXGT021672 Death domain-associated protein 6 1616 reviewed
Q9NRR4 BXGT025788 Ribonuclease 3 29102 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