adisease

Showing entry for Timothy syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD013883
Disease Name	Timothy syndrome
Disease CUI Id	C1832916
MeSH Codes	C23 C16 C05 F03 C14
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular 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
O43278	BXGT004581	Kunitz-type protease inhibitor 1	6692	reviewed
O60840	BXGT004901	Voltage-dependent L-type calcium channel subunit alpha-1F	778	reviewed	Ion channel
P01732	BXGT005782	T-cell surface glycoprotein CD8 alpha chain	925	reviewed
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P04818	BXGT006269	Thymidylate synthase	7298	reviewed	Enzyme
P07101	BXGT006547	Tyrosine 3-monooxygenase	7054	reviewed
P11473	BXGT007709	Vitamin D3 receptor	7421	reviewed	Nuclear receptor
P24298	BXGT008960	Alanine aminotransferase 1	2875	reviewed	Enzyme
P49841	BXGT010750	Glycogen synthase kinase-3 beta	2932	reviewed	Kinase
P51787	BXGT010889	Potassium voltage-gated channel subfamily KQT member 1	3784	reviewed	Ion channel
Q00535	BXGT012534	Cyclin-dependent-like kinase 5	1020	reviewed	Kinase
Q07021	BXGT012915	Complement component 1 Q subcomponent-binding protein, mitochondrial	708	reviewed
Q13936	BXGT013404	Voltage-dependent L-type calcium channel subunit alpha-1C	775	reviewed	Ion channel
Q9Y5Y6	BXGT022308	Suppressor of tumorigenicity 14 protein	6768	reviewed	Enzyme
O60502	BXGT023392	Protein O-GlcNAcase	10724	reviewed
Q86SQ9	BXGT025875	Dehydrodolichyl diphosphate synthase complex subunit DHDDS	79947	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}