adisease

Showing entry for Refsum Disease

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD002499
Disease Name	Refsum Disease
Disease CUI Id	C0034960
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
O14832	BXGT004104	Phytanoyl-CoA dioxygenase, peroxisomal	5264	reviewed
P02766	BXGT005953	Transthyretin	7276	reviewed	Transporter
P02768	BXGT005955	Serum albumin	213	reviewed	Transporter
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P31151	BXGT009510	Protein S100-A7	6278	reviewed	Calcium-binding protein

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}