adisease

General Disease Information
BXGD Id	BXGD014988
Disease Name	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
Disease CUI Id	C1848934
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 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
O75369	BXGT005119	Filamin-B	2317	reviewed
O75390	BXGT005123	Citrate synthase, mitochondrial	1431	reviewed	Enzyme
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P05067	BXGT006306	Amyloid-beta precursor protein	351	reviewed	Enzyme modulator
P05121	BXGT006320	Plasminogen activator inhibitor 1	5054	reviewed	Enzyme modulator
P05231	BXGT006345	Interleukin-6	3569	reviewed
P05362	BXGT006350	Intercellular adhesion molecule 1	3383	reviewed
P10145	BXGT007542	Interleukin-8	3576	reviewed	Signaling
P10644	BXGT007597	cAMP-dependent protein kinase type I-alpha regulatory subunit	5573	reviewed
P11413	BXGT007701	Glucose-6-phosphate 1-dehydrogenase	2539	reviewed	Enzyme
P14616	BXGT008026	Insulin receptor-related protein	3645	reviewed	Kinase
P19320	BXGT008470	Vascular cell adhesion protein 1	7412	reviewed
P24385	BXGT008965	G1/S-specific cyclin-D1	595	reviewed	Enzyme modulator
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P68871	BXGT011615	Hemoglobin subunit beta	3043	reviewed
P69892	BXGT011647	Hemoglobin subunit gamma-2	3048	reviewed
Q02750	BXGT012662	Dual specificity mitogen-activated protein kinase kinase 1	5604	reviewed	Kinase
Q9BV57	BXGT020140	1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase	55256	reviewed	Enzyme
Q9BSA9	BXGT025892	Endosomal/lysosomal potassium channel TMEM175	84286	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}