adisease

Showing entry for Pili torti-deafness syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD005603
Disease Name	Pili torti-deafness syndrome
Disease CUI Id	C0266006
MeSH Codes	C23 C18 C17 C10 C09
Disease Class Name	Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic 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
O14656	BXGT004080	Torsin-1A	1861	reviewed	Chaperone
P04818	BXGT006269	Thymidylate synthase	7298	reviewed	Enzyme
P21675	BXGT008678	Transcription initiation factor TFIID subunit 1	6872	reviewed	Kinase
Q96KS0	BXGT019688	Egl nine homolog 2	112398	reviewed
Q9H6Z9	BXGT020488	Egl nine homolog 3	112399	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}