Showing entry for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015359
Disease NameSPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
Disease CUI IdC1853761
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
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P18887 BXGT008437 DNA repair protein XRCC1 7515 reviewed
P49638 BXGT010720 Alpha-tocopherol transfer protein 7274 reviewed Transporter
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q7Z2E3 BXGT017246 Aprataxin 54840 reviewed Nucleic acid binding
Q8WVQ1 BXGT018996 Soluble calcium-activated nucleotidase 1 124583 reviewed
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q9NZJ4 BXGT021274 Sacsin 26278 reviewed
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