adisease

Showing entry for Facial hypotonia

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD014734
Disease Name	Facial hypotonia
Disease CUI Id	C1845251
MeSH Codes	C23 C10
Disease Class Name	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Semantic Type	Finding
Human Phenotype Ontology Id	HP:0000152 HP:0003011
Human Phenotype Ontology Term	Abnormality of head or neck; Abnormality of the musculature
Disease Ontology Id
Disease Ontology Class Name
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
O00189	BXGT003891	AP-4 complex subunit mu-1	9179	reviewed	Extracellular structure
P30153	BXGT009409	Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform	5518	reviewed	Enzyme
P41229	BXGT010239	Lysine-specific demethylase 5C	8242	reviewed
P42263	BXGT010295	Glutamate receptor 3	2892	reviewed	Ion channel
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
Q13555	BXGT013375	Calcium/calmodulin-dependent protein kinase type II subunit gamma	818	reviewed	Kinase
Q13936	BXGT013404	Voltage-dependent L-type calcium channel subunit alpha-1C	775	reviewed	Ion channel
Q15907	BXGT013611	Ras-related protein Rab-11B	9230	reviewed
Q7RTN6	BXGT017085	STE20-related kinase adapter protein alpha	92335	reviewed	Kinase
Q96IV0	BXGT019677	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	55768	reviewed	Enzyme
Q9NYG8	BXGT021257	Potassium channel subfamily K member 4	50801	reviewed	Ion channel
Q9UQD0	BXGT021811	Sodium channel protein type 8 subunit alpha	6334	reviewed	Ion channel
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator

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}