adisease

Showing entry for SHORT syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD011389
Disease Name	SHORT syndrome
Disease CUI Id	C0878684
MeSH Codes	C23 C18 C13 C12
Disease Class Name	Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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
O00329	BXGT003909	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	5293	reviewed	Kinase
P08069	BXGT006723	Insulin-like growth factor 1 receptor	3480	reviewed	Kinase
P27986	BXGT009216	Phosphatidylinositol 3-kinase regulatory subunit alpha	5295	reviewed	Kinase
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P42338	BXGT010303	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	5291	reviewed	Kinase
P48736	BXGT010658	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	5294	reviewed	Kinase
Q02156	BXGT012639	Protein kinase C epsilon type	5581	reviewed	Kinase

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}