adisease

Showing entry for Choreoathetosis

General Disease Information
BXGD Id	BXGD003194
Disease Name	Choreoathetosis
Disease CUI Id	C0085583
MeSH Codes	C23 C10
Disease Class Name	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0000707
Human Phenotype Ontology Term	Abnormality of the nervous system
Disease Ontology Id
Disease Ontology Class Name
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
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O15239	BXGT004139	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1	4694	reviewed
O76039	BXGT005171	Cyclin-dependent kinase-like 5	6792	reviewed	Kinase
P00492	BXGT005556	Hypoxanthine-guanine phosphoribosyltransferase	3251	reviewed	Enzyme
P00846	BXGT005674	ATP synthase subunit a	4508	reviewed	Transporter
P02792	BXGT005966	Ferritin light chain	2512	reviewed	Storage
P04350	BXGT006193	Tubulin beta-4A chain	10382	reviewed	Cellular structure
P08559	BXGT006788	Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	5160	reviewed
P09417	BXGT006888	Dihydropteridine reductase	5860	reviewed	Enzyme
P10809	BXGT007617	60 kDa heat shock protein, mitochondrial	3329	reviewed
P11166	BXGT007661	Solute carrier family 2, facilitated glucose transporter member 1	6513	reviewed	Transporter
P13637	BXGT007933	Sodium/potassium-transporting ATPase subunit alpha-3	478	reviewed	Transporter
P17658	BXGT008326	Potassium voltage-gated channel subfamily A member 6	3742	reviewed	Ion channel
P18074	BXGT008374	General transcription and DNA repair factor IIH helicase subunit XPD	2068	reviewed	Enzyme
P20711	BXGT008594	Aromatic-L-amino-acid decarboxylase	1644	reviewed
P21579	BXGT008665	Synaptotagmin-1	6857	reviewed	Transporter
P22033	BXGT008721	Methylmalonyl-CoA mutase, mitochondrial	4594	reviewed	Enzyme
P22460	BXGT008774	Potassium voltage-gated channel subfamily A member 5	3741	reviewed	Ion channel
P23378	BXGT008859	Glycine dehydrogenase (decarboxylating), mitochondrial	2731	reviewed	Enzyme
P30793	BXGT009466	GTP cyclohydrolase 1	2643	reviewed	Enzyme
P35270	BXGT009807	Sepiapterin reductase	6697	reviewed
P50993	BXGT010826	Sodium/potassium-transporting ATPase subunit alpha-2	477	reviewed	Transporter
P51687	BXGT010882	Sulfite oxidase, mitochondrial	6821	reviewed
P54098	BXGT011030	DNA polymerase subunit gamma-1	5428	reviewed	Enzyme
P55265	BXGT011117	Double-stranded RNA-specific adenosine deaminase	103	reviewed	Enzyme
P57059	BXGT011210	Serine/threonine-protein kinase SIK1	150094	reviewed
P63092	BXGT011495	Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	2778	reviewed
P98164	BXGT012230	Low-density lipoprotein receptor-related protein 2	4036	reviewed
Q00975	BXGT012558	Voltage-dependent N-type calcium channel subunit alpha-1B	774	reviewed	Ion channel
Q03393	BXGT012711	6-pyruvoyl tetrahydrobiopterin synthase	5805	reviewed
Q03468	BXGT012716	DNA excision repair protein ERCC-6	2074	reviewed
Q09470	BXGT013037	Potassium voltage-gated channel subfamily A member 1	3736	reviewed	Ion channel
Q13315	BXGT013339	Serine-protein kinase ATM	472	reviewed	Kinase
Q13936	BXGT013404	Voltage-dependent L-type calcium channel subunit alpha-1C	775	reviewed	Ion channel
Q16795	BXGT013671	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial	4704	reviewed	Enzyme
Q7Z2E3	BXGT017246	Aprataxin	54840	reviewed	Nucleic acid binding
Q8TCS8	BXGT018799	Polyribonucleotide nucleotidyltransferase 1, mitochondrial	87178	reviewed	Enzyme
Q96T60	BXGT019745	Bifunctional polynucleotide phosphatase/kinase	11284	reviewed
Q99250	BXGT019913	Sodium channel protein type 2 subunit alpha	6326	reviewed	Ion channel
Q99714	BXGT019954	3-hydroxyacyl-CoA dehydrogenase type-2	3028	reviewed	Enzyme
Q9BZ23	BXGT020194	Pantothenate kinase 2, mitochondrial	80025	reviewed	Kinase
Q9P0J0	BXGT021287	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13	51079	reviewed	Enzyme
Q9UQD0	BXGT021811	Sodium channel protein type 8 subunit alpha	6334	reviewed	Ion channel
Q9Y233	BXGT022210	cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A	10846	reviewed
Q59FF6	BXGT023693	Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant	2074	unreviewed
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
P09471	BXGT026153	Guanine nucleotide-binding protein G(o) subunit alpha	2775	reviewed	Enzyme modulator

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}