adisease

Showing entry for ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD015913
Disease Name	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
Disease CUI Id	C1859598
MeSH Codes	C23 C10 C15 F01
Disease Class Name	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
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
O15527	BXGT004176	N-glycosylase/DNA lyase	4968	reviewed
O75874	BXGT005157	Isocitrate dehydrogenase [NADP] cytoplasmic	3417	reviewed
P00533	BXGT005575	Epidermal growth factor receptor	1956	reviewed	Kinase
P08842	BXGT006830	Steryl-sulfatase	412	reviewed	Enzyme
P09874	BXGT006934	Poly [ADP-ribose] polymerase 1	142	reviewed
P11387	BXGT007696	DNA topoisomerase 1	7150	reviewed	Enzyme
P16455	BXGT008229	Methylated-DNA--protein-cysteine methyltransferase	4255	reviewed
P18887	BXGT008437	DNA repair protein XRCC1	7515	reviewed
P27695	BXGT009199	DNA-(apurinic or apyrimidinic site) lyase	328	reviewed
P31040	BXGT009503	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	6389	reviewed	Enzyme
P49959	BXGT010766	Double-strand break repair protein MRE11	4361	reviewed
Q13315	BXGT013339	Serine-protein kinase ATM	472	reviewed	Kinase
Q16236	BXGT013624	Nuclear factor erythroid 2-related factor 2	4780	reviewed	Enzyme
Q16595	BXGT013643	Frataxin, mitochondrial	2395	reviewed	Enzyme
Q7Z2E3	BXGT017246	Aprataxin	54840	reviewed	Nucleic acid binding
Q96T60	BXGT019745	Bifunctional polynucleotide phosphatase/kinase	11284	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}