adisease

Showing entry for Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD005957
Disease Name	Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Disease CUI Id	C0268468
MeSH Codes	C23 C16 C18 C10 F01
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System 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
O14773	BXGT004096	Tripeptidyl-peptidase 1	1200	reviewed	Enzyme
P05231	BXGT006345	Interleukin-6	3569	reviewed
P10398	BXGT007564	Serine/threonine-protein kinase A-Raf	369	reviewed	Kinase
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P30793	BXGT009466	GTP cyclohydrolase 1	2643	reviewed	Enzyme
P35270	BXGT009807	Sepiapterin reductase	6697	reviewed
P36222	BXGT009914	Chitinase-3-like protein 1	1116	reviewed
Q03393	BXGT012711	6-pyruvoyl tetrahydrobiopterin synthase	5805	reviewed
Q96PE7	BXGT019707	Methylmalonyl-CoA epimerase, mitochondrial	84693	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}