Showing entry for Methylmalonic acidemia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005997
Disease NameMethylmalonic acidemia
Disease CUI IdC0268583
MeSH Codes C16   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0001939  
Human Phenotype Ontology TermAbnormality of metabolism/homeostasis
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease 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
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O76082 BXGT005175 Solute carrier family 22 member 5 6584 reviewed Transporter
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P04179 BXGT006163 Superoxide dismutase [Mn], mitochondrial 6648 reviewed Enzyme
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
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P99999 BXGT012235 Cytochrome c 54205 reviewed
Q06830 BXGT012894 Peroxiredoxin-1 5052 reviewed Enzyme
Q8N159 BXGT018496 N-acetylglutamate synthase, mitochondrial 162417 reviewed
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
P09471 BXGT026153 Guanine nucleotide-binding protein G(o) subunit alpha 2775 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