adisease

Showing entry for Familial hypercholesterolemia - homozygous

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD007572
Disease Name	Familial hypercholesterolemia - homozygous
Disease CUI Id	C0342881
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
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
P01130	BXGT005735	Low-density lipoprotein receptor	3949	reviewed
P02647	BXGT005908	Apolipoprotein A-I	335	reviewed
P02649	BXGT005909	Apolipoprotein E	348	reviewed
P04035	BXGT006129	3-hydroxy-3-methylglutaryl-coenzyme A reductase	3156	reviewed
P05543	BXGT006366	Thyroxine-binding globulin	6906	reviewed	Enzyme modulator
P06858	BXGT006515	Lipoprotein lipase	4023	reviewed	Enzyme
P07327	BXGT006598	Alcohol dehydrogenase 1A	124	reviewed	Enzyme
P07438	BXGT006625	Metallothionein-1B	4490	reviewed
P34949	BXGT009775	Mannose-6-phosphate isomerase	4351	reviewed	Enzyme
P55157	BXGT011108	Microsomal triglyceride transfer protein large subunit	4547	reviewed	Transporter
P98155	BXGT012226	Very low-density lipoprotein receptor	7436	reviewed
Q8NBP7	BXGT018541	Proprotein convertase subtilisin/kexin type 9	255738	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}