adisease

Showing entry for Familial hypercholesterolemia - heterozygous

General Disease Information
BXGD Id	BXGD007573
Disease Name	Familial hypercholesterolemia - heterozygous
Disease CUI Id	C0342882
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
Disease Ontology Class Name
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
O75369	BXGT005119	Filamin-B	2317	reviewed
O95477	BXGT005383	Phospholipid-transporting ATPase ABCA1	19	reviewed	Transporter
P00747	BXGT005639	Plasminogen	5340	reviewed	Enzyme
P01130	BXGT005735	Low-density lipoprotein receptor	3949	reviewed
P01189	BXGT005742	Pro-opiomelanocortin	5443	reviewed
P02647	BXGT005908	Apolipoprotein A-I	335	reviewed
P02649	BXGT005909	Apolipoprotein E	348	reviewed
P02741	BXGT005936	C-reactive protein	1401	reviewed
P03372	BXGT006059	Estrogen receptor	2099	reviewed	Nuclear receptor
P04035	BXGT006129	3-hydroxy-3-methylglutaryl-coenzyme A reductase	3156	reviewed
P05121	BXGT006320	Plasminogen activator inhibitor 1	5054	reviewed	Enzyme modulator
P06858	BXGT006515	Lipoprotein lipase	4023	reviewed	Enzyme
P07438	BXGT006625	Metallothionein-1B	4490	reviewed
P08183	BXGT006741	ATP-dependent translocase ABCB1	5243	reviewed	Transporter
P10145	BXGT007542	Interleukin-8	3576	reviewed	Signaling
P11597	BXGT007727	Cholesteryl ester transfer protein	1071	reviewed
P12821	BXGT007849	Angiotensin-converting enzyme	1636	reviewed	Enzyme
P13501	BXGT007917	C-C motif chemokine 5	6352	reviewed	Signaling
P16109	BXGT008194	P-selectin	6403	reviewed
P16671	BXGT008255	Platelet glycoprotein 4	948	reviewed	Receptor
P27708	BXGT009202	CAD protein	790	reviewed	Enzyme
P30556	BXGT009441	Type-1 angiotensin II receptor	185	reviewed	G-protein coupled receptor
P42898	BXGT010344	Methylenetetrahydrofolate reductase	4524	reviewed
P55157	BXGT011108	Microsomal triglyceride transfer protein large subunit	4547	reviewed	Transporter
Q13093	BXGT013310	Platelet-activating factor acetylhydrolase	7941	reviewed	Enzyme
Q8NBP7	BXGT018541	Proprotein convertase subtilisin/kexin type 9	255738	reviewed	Enzyme
Q8WY64	BXGT019017	E3 ubiquitin-protein ligase MYLIP	29116	reviewed
Q9Y6L6	BXGT022334	Solute carrier organic anion transporter family member 1B1	10599	reviewed	Transporter

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}