Showing entry for Dystonia Musculorum Deformans


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000838
Disease NameDystonia Musculorum Deformans
Disease CUI IdC0013423
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0000707  
Human Phenotype Ontology TermAbnormality of the nervous system
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
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
P00966 BXGT005707 Argininosuccinate synthase 445 reviewed Enzyme
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P06396 BXGT006435 Gelsolin 2934 reviewed Cellular structure
P09172 BXGT006865 Dopamine beta-hydroxylase 1621 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P21675 BXGT008678 Transcription initiation factor TFIID subunit 1 6872 reviewed Kinase
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P84074 BXGT012030 Neuron-specific calcium-binding protein hippocalcin 3208 reviewed
Q05586 BXGT012826 Glutamate receptor ionotropic, NMDA 1 2902 reviewed Ion channel
Q06187 BXGT012860 Tyrosine-protein kinase BTK 695 reviewed Kinase
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q5T6L4 BXGT015848 Argininosuccinate synthase 1 isoform 1 445 unreviewed
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
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