adisease

Showing entry for SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD015011
Disease Name	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Disease CUI Id	C1849140
MeSH Codes	C23 C16 C05 C10
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:7
Disease Ontology Class Name	genetic 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
O00429	BXGT003919	Dynamin-1-like protein	10059	reviewed	Enzyme modulator
P07237	BXGT006576	Protein disulfide-isomerase	5034	reviewed
P08670	BXGT006810	Vimentin	7431	reviewed
P46939	BXGT010555	Utrophin	7402	reviewed
P54098	BXGT011030	DNA polymerase subunit gamma-1	5428	reviewed	Enzyme
Q7Z2E3	BXGT017246	Aprataxin	54840	reviewed	Nucleic acid binding
Q8NI60	BXGT018572	Atypical kinase COQ8A, mitochondrial	56997	reviewed	Kinase
Q9NZJ4	BXGT021274	Sacsin	26278	reviewed
Q9UH99	BXGT021693	SUN domain-containing protein 2	25777	reviewed	Cellular structure
Q9UIK4	BXGT021720	Death-associated protein kinase 2	23604	reviewed	Kinase
Q96C86	BXGT022803	m7GpppX diphosphatase	28960	reviewed	Enzyme
O43583	BXGT024866	Density-regulated protein	8562	reviewed	Enzyme
Q9Y4W6	BXGT025025	AFG3-like protein 2	10939	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}