adisease

Showing entry for Homocystinuria

General Disease Information
BXGD Id	BXGD001351
Disease Name	Homocystinuria
Disease CUI Id	C0019880
MeSH Codes	C16 C18 C17 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0001939 HP:0000119
Human Phenotype Ontology Term	Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
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
O00767	BXGT003949	Acyl-CoA desaturase	6319	reviewed
P00451	BXGT005545	Coagulation factor VIII	2157	reviewed	Enzyme
P00505	BXGT005560	Aspartate aminotransferase, mitochondrial	2806	reviewed
P00747	BXGT005639	Plasminogen	5340	reviewed	Enzyme
P01008	BXGT005713	Antithrombin-III	462	reviewed	Enzyme modulator
P04070	BXGT006143	Vitamin K-dependent protein C	5624	reviewed	Enzyme
P04275	BXGT006180	von Willebrand factor	7450	reviewed	Enzyme modulator
P05546	BXGT006367	Heparin cofactor 2	3053	reviewed	Enzyme modulator
P06276	BXGT006430	Cholinesterase	590	reviewed
P07101	BXGT006547	Tyrosine 3-monooxygenase	7054	reviewed
P07204	BXGT006567	Thrombomodulin	7056	reviewed
P09466	BXGT006892	Glycodelin	5047	reviewed	Enzyme
P0DN79	BXGT007511	Cystathionine beta-synthase-like protein	875	reviewed
P10646	BXGT007598	Tissue factor pathway inhibitor	7035	reviewed	Enzyme modulator
P13726	BXGT007950	Tissue factor	2152	reviewed	Receptor
P14679	BXGT008039	Tyrosinase	7299	reviewed	Enzyme
P17174	BXGT008289	Aspartate aminotransferase, cytoplasmic	2805	reviewed
P20711	BXGT008594	Aromatic-L-amino-acid decarboxylase	1644	reviewed
P22033	BXGT008721	Methylmalonyl-CoA mutase, mitochondrial	4594	reviewed	Enzyme
P28300	BXGT009243	Protein-lysine 6-oxidase	4015	reviewed
P35520	BXGT009842	Cystathionine beta-synthase	875	reviewed
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P42898	BXGT010344	Methylenetetrahydrofolate reductase	4524	reviewed
P49419	BXGT010705	Alpha-aminoadipic semialdehyde dehydrogenase	501	reviewed	Enzyme
Q00266	BXGT012515	S-adenosylmethionine synthase isoform type-1	4143	reviewed	Enzyme
Q06830	BXGT012894	Peroxiredoxin-1	5052	reviewed	Enzyme
Q99707	BXGT019952	Methionine synthase	4548	reviewed
Q9UBK8	BXGT021655	Methionine synthase reductase	4552	reviewed
Q9Y4U1	BXGT022285	Methylmalonic aciduria and homocystinuria type C protein	25974	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}