Showing entry for Early onset torsion dystonia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD019948
Disease NameEarly onset torsion dystonia
Disease CUI IdC3888090
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: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
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
P00966 BXGT005707 Argininosuccinate synthase 445 reviewed Enzyme
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P13569 BXGT007923 Cystic fibrosis transmembrane conductance regulator 1080 reviewed Ion channel
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
P84074 BXGT012030 Neuron-specific calcium-binding protein hippocalcin 3208 reviewed
Q01959 BXGT012624 Sodium-dependent dopamine transporter 6531 reviewed Transporter
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q5T6L4 BXGT015848 Argininosuccinate synthase 1 isoform 1 445 unreviewed
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