adisease

Showing entry for Apert syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD000030
Disease Name	Apert syndrome
Disease CUI Id	C0001193
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:7 DOID:225
Disease Ontology Class Name	genetic disease; disease of anatomical entity; 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
O95750	BXGT005395	Fibroblast growth factor 19	9965	reviewed	Signaling
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P02751	BXGT005943	Fibronectin	2335	reviewed	Signaling
P07949	BXGT006703	Proto-oncogene tyrosine-protein kinase receptor Ret	5979	reviewed	Kinase
P09038	BXGT006851	Fibroblast growth factor 2	2247	reviewed	Signaling
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P12643	BXGT007830	Bone morphogenetic protein 2	650	reviewed	Signaling
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P24385	BXGT008965	G1/S-specific cyclin-D1	595	reviewed	Enzyme modulator
P40763	BXGT010202	Signal transducer and activator of transcription 3	6774	reviewed	Nucleic acid binding
P45983	BXGT010494	Mitogen-activated protein kinase 8	5599	reviewed	Kinase
Q13526	BXGT013369	Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	5300	reviewed
Q96BZ9	BXGT019629	TBC1 domain family member 20	128637	reviewed
Q9NP72	BXGT021144	Ras-related protein Rab-18	22931	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}