adisease

Showing entry for Methylmalonic aciduria

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD015463
Disease Name	Methylmalonic aciduria
Disease CUI Id	C1855119
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	HP:0001939 HP:0000119
Human Phenotype Ontology Term	Abnormality of metabolism/homeostasis; Abnormality of the genitourinary 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
P04179	BXGT006163	Superoxide dismutase [Mn], mitochondrial	6648	reviewed	Enzyme
P20062	BXGT008543	Transcobalamin-2	6948	reviewed
P22033	BXGT008721	Methylmalonyl-CoA mutase, mitochondrial	4594	reviewed	Enzyme
P29373	BXGT009337	Cellular retinoic acid-binding protein 2	1382	reviewed
P35270	BXGT009807	Sepiapterin reductase	6697	reviewed
P42898	BXGT010344	Methylenetetrahydrofolate reductase	4524	reviewed
P99999	BXGT012235	Cytochrome c	54205	reviewed
Q06830	BXGT012894	Peroxiredoxin-1	5052	reviewed	Enzyme
Q96EY8	BXGT019655	Corrinoid adenosyltransferase	326625	reviewed	Enzyme
Q96I99	BXGT019676	Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial	8801	reviewed	Enzyme
Q96PE7	BXGT019707	Methylmalonyl-CoA epimerase, mitochondrial	84693	reviewed	Enzyme
Q99707	BXGT019952	Methionine synthase	4548	reviewed
Q9NPF0	BXGT021153	CD320 antigen	51293	reviewed
Q9P2R7	BXGT021304	Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial	8803	reviewed	Enzyme
Q9Y4U1	BXGT022285	Methylmalonic aciduria and homocystinuria type C protein	25974	reviewed
Q9NVA2	BXGT025757	Septin-11	55752	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}