adisease

Showing entry for Oculocutaneous albinism type 2

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD005964
Disease Name	Oculocutaneous albinism type 2
Disease CUI Id	C0268495
MeSH Codes	C16 C18 C11 C17
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630
Disease Ontology Class Name	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
P14679	BXGT008039	Tyrosinase	7299	reviewed	Enzyme
P17643	BXGT008323	5,6-dihydroxyindole-2-carboxylic acid oxidase	7306	reviewed	Enzyme
P28472	BXGT009260	Gamma-aminobutyric acid receptor subunit beta-3	2562	reviewed	Ion channel
P31644	BXGT009557	Gamma-aminobutyric acid receptor subunit alpha-5	2558	reviewed	Ion channel
Q01726	BXGT012610	Melanocyte-stimulating hormone receptor	4157	reviewed	G-protein coupled receptor

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}