adisease

Showing entry for Oculocutaneous albinism type 1A

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD023324
Disease Name	Oculocutaneous albinism type 1A
Disease CUI Id	C4551504
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
P00797	BXGT005658	Renin	5972	reviewed	Enzyme
P01019	BXGT005717	Angiotensinogen	183	reviewed	Enzyme modulator
P02741	BXGT005936	C-reactive protein	1401	reviewed
P14679	BXGT008039	Tyrosinase	7299	reviewed	Enzyme
P15941	BXGT008176	Mucin-1	4582	reviewed
P51681	BXGT010878	C-C chemokine receptor type 5	1234	reviewed	G-protein coupled receptor
P54802	BXGT011081	Alpha-N-acetylglucosaminidase	4669	reviewed
P80188	BXGT011882	Neutrophil gelatinase-associated lipocalin	3934	reviewed	Enzyme
Q01118	BXGT012570	Sodium channel protein type 7 subunit alpha	6332	reviewed	Ion channel
Q14116	BXGT013442	Interleukin-18	3606	reviewed
Q16665	BXGT013653	Hypoxia-inducible factor 1-alpha	3091	reviewed	Transcription factor
Q99593	BXGT019939	T-box transcription factor TBX5	6910	reviewed	Transcription factor

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}