adisease

Showing entry for 22q13.3 Deletion Syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD015341
Disease Name	22q13.3 Deletion Syndrome
Disease CUI Id	C1853490
MeSH Codes	C23 C16
Disease Class Name	Pathological Conditions, Signs and Symptoms; 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
P01308	BXGT005749	Insulin	3630	reviewed
P15289	BXGT008102	Arylsulfatase A	410	reviewed	Enzyme
P46531	BXGT010526	Neurogenic locus notch homolog protein 1	4851	reviewed
P49760	BXGT010735	Dual specificity protein kinase CLK2	1196	reviewed	Kinase
Q13936	BXGT013404	Voltage-dependent L-type calcium channel subunit alpha-1C	775	reviewed	Ion channel
Q7Z3B3	BXGT017249	KAT8 regulatory NSL complex subunit 1	284058	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}