adisease

Showing entry for Waardenburg Syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD018606
Disease Name	Waardenburg Syndrome
Disease CUI Id	C3266898
MeSH Codes	C16
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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
O75030	BXGT005096	Microphthalmia-associated transcription factor	4286	reviewed
P00966	BXGT005707	Argininosuccinate synthase	445	reviewed	Enzyme
P05187	BXGT006339	Alkaline phosphatase, placental type	250	reviewed	Enzyme
P07949	BXGT006703	Proto-oncogene tyrosine-protein kinase receptor Ret	5979	reviewed	Kinase
P10721	BXGT007605	Mast/stem cell growth factor receptor Kit	3815	reviewed	Kinase
P14679	BXGT008039	Tyrosinase	7299	reviewed	Enzyme
P16442	BXGT008227	Histo-blood group ABO system transferase	28	reviewed	Enzyme
P24530	BXGT008975	Endothelin receptor type B	1910	reviewed	G-protein coupled receptor
P29033	BXGT009308	Gap junction beta-2 protein	2706	reviewed	Cell-cell junction
P29400	BXGT009343	Collagen alpha-5(IV) chain	1287	reviewed
P54764	BXGT011078	Ephrin type-A receptor 4	2043	reviewed	Kinase
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q5T6L4	BXGT015848	Argininosuccinate synthase 1 isoform 1	445	unreviewed

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}