adisease

Showing entry for Amino Acid Metabolism, Inborn Errors

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD000118
Disease Name	Amino Acid Metabolism, Inborn Errors
Disease CUI Id	C0002514
MeSH Codes	C16 C18
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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
O43272	BXGT004580	Proline dehydrogenase 1, mitochondrial	5625	reviewed	Enzyme
P00439	BXGT005539	Phenylalanine-4-hydroxylase	5053	reviewed
P04181	BXGT006165	Ornithine aminotransferase, mitochondrial	4942	reviewed	Enzyme
P05089	BXGT006310	Arginase-1	383	reviewed	Enzyme
P15104	BXGT008081	Glutamine synthetase	2752	reviewed	Enzyme
P23526	BXGT008878	Adenosylhomocysteinase	191	reviewed	Enzyme
P48506	BXGT010635	Glutamate--cysteine ligase catalytic subunit	2729	reviewed	Enzyme
P78330	BXGT011833	Phosphoserine phosphatase	5723	reviewed	Enzyme
Q00266	BXGT012515	S-adenosylmethionine synthase isoform type-1	4143	reviewed	Enzyme
Q01831	BXGT012621	DNA repair protein complementing XP-C cells	7508	reviewed	Nucleic acid binding
Q14353	BXGT013463	Guanidinoacetate N-methyltransferase	2593	reviewed
Q9P2K8	BXGT021302	eIF-2-alpha kinase GCN2	440275	reviewed
Q695T7	BXGT024794	Sodium-dependent neutral amino acid transporter B(0)AT1	340024	reviewed
Q96HY7	BXGT025609	Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial	55526	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}