adisease

Showing entry for Lymphedema, microcephaly and chorioretinopathy syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD014022
Disease Name	Lymphedema, microcephaly and chorioretinopathy syndrome
Disease CUI Id	C1835265
MeSH Codes	C23 C16 C11 C05 C10 C15
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:225
Disease Ontology Class Name	genetic disease; syndrome
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
O00555	BXGT003936	Voltage-dependent P/Q-type calcium channel subunit alpha-1A	773	reviewed	Ion channel
P52732	BXGT010948	Kinesin-like protein KIF11	3832	reviewed	Cellular structure
Q12756	BXGT013261	Kinesin-like protein KIF1A	547	reviewed	Cellular structure
Q14643	BXGT013493	Inositol 1,4,5-trisphosphate receptor type 1	3708	reviewed	Ion channel
Q7Z2E3	BXGT017246	Aprataxin	54840	reviewed	Nucleic acid binding

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}