adisease

Showing entry for Schwartz-Jampel Syndrome, Type 1

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD023309
Disease Name	Schwartz-Jampel Syndrome, Type 1
Disease CUI Id	C4551479
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P10415	BXGT007567	Apoptosis regulator Bcl-2	596	reviewed	Signaling
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P16278	BXGT008213	Beta-galactosidase	2720	reviewed	Enzyme
P17948	BXGT008358	Vascular endothelial growth factor receptor 1	2321	reviewed	Kinase
P21333	BXGT008638	Filamin-A	2316	reviewed
P35968	BXGT009887	Vascular endothelial growth factor receptor 2	3791	reviewed	Kinase
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q9HBA0	BXGT020516	Transient receptor potential cation channel subfamily V member 4	59341	reviewed	Ion channel

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}