adisease

Showing entry for Spondyloepiphyseal dysplasia, congenita

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD017570
Disease Name	Spondyloepiphyseal dysplasia, congenita
Disease CUI Id	C2745959
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
Disease Ontology Class Name	genetic disease; disease of anatomical entity
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
P16278	BXGT008213	Beta-galactosidase	2720	reviewed	Enzyme
P28907	BXGT009301	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1	952	reviewed	Enzyme
P43403	BXGT010385	Tyrosine-protein kinase ZAP-70	7535	reviewed	Kinase
P49747	BXGT010732	Cartilage oligomeric matrix protein	1311	reviewed
P98160	BXGT012228	Basement membrane-specific heparan sulfate proteoglycan core protein	3339	reviewed	Enzyme modulator
Q06520	BXGT012880	Bile salt sulfotransferase	6822	reviewed
Q8WVQ1	BXGT018996	Soluble calcium-activated nucleotidase 1	124583	reviewed
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}