adisease

Showing entry for Hereditary Hyperexplexia

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD014039
Disease Name	Hereditary Hyperexplexia
Disease CUI Id	C1835614
MeSH Codes	C23 C05 C10
Disease Class Name	Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System 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
F7VJQ1	BXGT003310	Alternative prion protein	5621	reviewed
P04156	BXGT006156	Major prion protein	5621	reviewed
P07333	BXGT006602	Macrophage colony-stimulating factor 1 receptor	1436	reviewed	Kinase
P23415	BXGT008864	Glycine receptor subunit alpha-1	2741	reviewed	Ion channel
P48167	BXGT010621	Glycine receptor subunit beta	2743	reviewed	Ion channel
Q9NQX3	BXGT021172	Gephyrin	10243	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}