adisease

Showing entry for Rieger eye malformation sequence

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD018988
Disease Name	Rieger eye malformation sequence
Disease CUI Id	C3495489
MeSH Codes	C16 C11
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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
O96028	BXGT005417	Histone-lysine N-methyltransferase NSD2	7468	reviewed	Epigenetic regulator
P02452	BXGT005878	Collagen alpha-1(I) chain	1277	reviewed
P08069	BXGT006723	Insulin-like growth factor 1 receptor	3480	reviewed	Kinase
P27986	BXGT009216	Phosphatidylinositol 3-kinase regulatory subunit alpha	5295	reviewed	Kinase
Q13363	BXGT013344	C-terminal-binding protein 1	1487	reviewed	Transcription factor
Q16678	BXGT013656	Cytochrome P450 1B1	1545	reviewed	Enzyme

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}