adisease

Showing entry for Congenital muscular dystrophy (disorder)

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD009862
Disease Name	Congenital muscular dystrophy (disorder)
Disease CUI Id	C0699743
MeSH Codes	C16 C05 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0003011
Human Phenotype Ontology Term	Abnormality of the musculature
Disease Ontology Id	DOID:7
Disease Ontology Class Name	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
A4D126	BXGT001208	D-ribitol-5-phosphate cytidylyltransferase	729920	reviewed
P01112	BXGT005732	GTPase HRas	3265	reviewed	Enzyme modulator
P01137	BXGT005737	Transforming growth factor beta-1 proprotein	7040	reviewed	Signaling
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P20807	BXGT008601	Calpain-3	825	reviewed	Enzyme
P21817	BXGT008693	Ryanodine receptor 1	6261	reviewed	Ion channel
P35790	BXGT009866	Choline kinase alpha	1119	reviewed	Kinase
P45379	BXGT010459	Troponin T, cardiac muscle	7139	reviewed	Cellular structure
P68133	BXGT011578	Actin, alpha skeletal muscle	58	reviewed	Cellular structure
Q14118	BXGT013444	Dystroglycan	1605	reviewed	Receptor
Q16637	BXGT013646	Survival motor neuron protein	6607	reviewed	Epigenetic regulator
Q8WZ42	BXGT019023	Titin	7273	reviewed	Kinase
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q9NWM8	BXGT021233	Peptidyl-prolyl cis-trans isomerase FKBP14	55033	reviewed
Q9Y259	BXGT022219	Choline/ethanolamine kinase	1120	reviewed	Kinase
Q9H9S5	BXGT024623	Fukutin-related protein	79147	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}