adisease

Showing entry for Maple Syrup Urine Disease

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD001802
Disease Name	Maple Syrup Urine Disease
Disease CUI Id	C0024776
MeSH Codes	C16 C18 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:0014667 DOID:630
Disease Ontology Class Name	disease of metabolism; genetic disease
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
O15382	BXGT004160	Branched-chain-amino-acid aminotransferase, mitochondrial	587	reviewed	Enzyme
P00439	BXGT005539	Phenylalanine-4-hydroxylase	5053	reviewed
P00734	BXGT005630	Prothrombin	2147	reviewed	Enzyme
P01584	BXGT005772	Interleukin-1 beta	3553	reviewed
P05121	BXGT006320	Plasminogen activator inhibitor 1	5054	reviewed	Enzyme modulator
P07339	BXGT006604	Cathepsin D	1509	reviewed	Enzyme
P10070	BXGT007534	Zinc finger protein GLI2	2736	reviewed
P12694	BXGT007835	2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial	593	reviewed
P15531	BXGT008136	Nucleoside diphosphate kinase A	4830	reviewed	Kinase
P21953	BXGT008711	2-oxoisovalerate dehydrogenase subunit beta, mitochondrial	594	reviewed	Enzyme
P23560	BXGT008883	Brain-derived neurotrophic factor	627	reviewed	Signaling
Q8N3J5	BXGT018506	Protein phosphatase 1K, mitochondrial	152926	reviewed	Enzyme
Q9NY47	BXGT021249	Voltage-dependent calcium channel subunit alpha-2/delta-2	9254	reviewed	Ion channel
P09622	BXGT023116	Dihydrolipoyl dehydrogenase, mitochondrial	1738	reviewed	Enzyme
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator

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}