Showing entry for Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD023346
Disease NameCerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Disease CUI IdC4551552
MeSH Codes C23   C10   F03   F01  
Disease Class NamePathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
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
P01236 BXGT005744 Prolactin 5617 reviewed Signaling
P01308 BXGT005749 Insulin 3630 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P05154 BXGT006327 Plasma serine protease inhibitor 5104 reviewed Enzyme modulator
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15941 BXGT008176 Mucin-1 4582 reviewed
P25440 BXGT009044 Bromodomain-containing protein 2 6046 reviewed Epigenetic regulator
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28845 BXGT009297 Corticosteroid 11-beta-dehydrogenase isozyme 1 3290 reviewed
P35219 BXGT009797 Carbonic anhydrase-related protein 767 reviewed
P98155 BXGT012226 Very low-density lipoprotein receptor 7436 reviewed
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q92731 BXGT019366 Estrogen receptor beta 2100 reviewed Nuclear receptor
Q9C000 BXGT020206 NACHT, LRR and PYD domains-containing protein 1 22861 reviewed
Q9NR96 BXGT021181 Toll-like receptor 9 54106 reviewed
Q9UKV0 BXGT021750 Histone deacetylase 9 9734 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