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Showing entry for Trifunctional Protein Deficiency With Myopathy And Neuropathy

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD016778
Disease Name	Trifunctional Protein Deficiency With Myopathy And Neuropathy
Disease CUI Id	C1969443
MeSH Codes	C16 C18 C05 C10 C14
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular 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
O43772	BXGT004623	Mitochondrial carnitine/acylcarnitine carrier protein	788	reviewed	Transporter
P07438	BXGT006625	Metallothionein-1B	4490	reviewed
P10253	BXGT007550	Lysosomal alpha-glucosidase	2548	reviewed	Enzyme
P23786	BXGT008906	Carnitine O-palmitoyltransferase 2, mitochondrial	1376	reviewed	Enzyme
P36551	BXGT009927	Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial	1371	reviewed	Enzyme
P49748	BXGT010733	Very long-chain specific acyl-CoA dehydrogenase, mitochondrial	37	reviewed	Enzyme
P50416	BXGT010797	Carnitine O-palmitoyltransferase 1, liver isoform	1374	reviewed	Enzyme
P55157	BXGT011108	Microsomal triglyceride transfer protein large subunit	4547	reviewed	Transporter
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
Q04446	BXGT012764	1,4-alpha-glucan-branching enzyme	2632	reviewed	Enzyme
Q16836	BXGT013679	Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial	3033	reviewed
Q86SQ9	BXGT025875	Dehydrodolichyl diphosphate synthase complex subunit DHDDS	79947	reviewed	Enzyme

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}