adisease

Showing entry for Congenital Fiber Type Disproportion

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD009330
Disease Name	Congenital Fiber Type Disproportion
Disease CUI Id	C0546264
MeSH Codes	C05 C10
Disease Class Name	Musculoskeletal Diseases; Nervous System Diseases
Semantic Type	Congenital Abnormality
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
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P06753	BXGT006498	Tropomyosin alpha-3 chain	7170	reviewed	Cellular structure
P21817	BXGT008693	Ryanodine receptor 1	6261	reviewed	Ion channel
P28907	BXGT009301	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1	952	reviewed	Enzyme
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P68133	BXGT011578	Actin, alpha skeletal muscle	58	reviewed	Cellular structure
Q09013	BXGT013023	Myotonin-protein kinase	1760	reviewed	Kinase
Q13586	BXGT013380	Stromal interaction molecule 1	6786	reviewed
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q96D31	BXGT019635	Calcium release-activated calcium channel protein 1	84876	reviewed	Ion channel
Q9NYL2	BXGT021259	Mitogen-activated protein kinase kinase kinase 20	51776	reviewed	Kinase
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}