adisease

Showing entry for Carbamoyl-Phosphate Synthase I Deficiency Disease

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD010576
Disease Name	Carbamoyl-Phosphate Synthase I Deficiency Disease
Disease CUI Id	C0751753
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
O95342	BXGT005373	Bile salt export pump	8647	reviewed	Transporter
P00480	BXGT005551	Ornithine carbamoyltransferase, mitochondrial	5009	reviewed
P01009	BXGT005714	Alpha-1-antitrypsin	5265	reviewed	Enzyme modulator
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P04424	BXGT006214	Argininosuccinate lyase	435	reviewed	Enzyme
P05155	BXGT006328	Plasma protease C1 inhibitor	710	reviewed	Enzyme modulator
P09601	BXGT006909	Heme oxygenase 1	3162	reviewed
P11172	BXGT007665	Uridine 5'-monophosphate synthase	7372	reviewed
P15104	BXGT008081	Glutamine synthetase	2752	reviewed	Enzyme
P31327	BXGT009523	Carbamoyl-phosphate synthase [ammonia], mitochondrial	1373	reviewed	Enzyme
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
Q01094	BXGT012568	Transcription factor E2F1	1869	reviewed	Nucleic acid binding
Q02127	BXGT012635	Dihydroorotate dehydrogenase (quinone), mitochondrial	1723	reviewed	Enzyme
Q06187	BXGT012860	Tyrosine-protein kinase BTK	695	reviewed	Kinase
Q99836	BXGT019970	Myeloid differentiation primary response protein MyD88	4615	reviewed	Enzyme modulator
Q9BZS1	BXGT020203	Forkhead box protein P3	50943	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}