adisease

Showing entry for Ethylmalonic encephalopathy

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD016317
Disease Name	Ethylmalonic encephalopathy
Disease CUI Id	C1865349
MeSH Codes	C23 C16 C18 C10 C15
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic 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
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P04179	BXGT006163	Superoxide dismutase [Mn], mitochondrial	6648	reviewed	Enzyme
P05231	BXGT006345	Interleukin-6	3569	reviewed
P08758	BXGT006821	Annexin A5	308	reviewed
P15941	BXGT008176	Mucin-1	4582	reviewed
P19971	BXGT008537	Thymidine phosphorylase	1890	reviewed	Enzyme
P23560	BXGT008883	Brain-derived neurotrophic factor	627	reviewed	Signaling
P41594	BXGT010266	Metabotropic glutamate receptor 5	2915	reviewed	G-protein coupled receptor
Q05193	BXGT012810	Dynamin-1	1759	reviewed	Enzyme modulator
Q07912	BXGT012947	Activated CDC42 kinase 1	10188	reviewed	Kinase
Q14457	BXGT013472	Beclin-1	8678	reviewed	Enzyme modulator
Q15063	BXGT013531	Periostin	10631	reviewed	Signaling
Q8NER1	BXGT018556	Transient receptor potential cation channel subfamily V member 1	7442	reviewed	Ion channel
Q92887	BXGT019389	Canalicular multispecific organic anion transporter 1	1244	reviewed	Transporter
Q8N573	BXGT026157	Oxidation resistance protein 1	55074	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}