adisease

Showing entry for Central Core Myopathy (disorder)

General Disease Information
BXGD Id	BXGD010648
Disease Name	Central Core Myopathy (disorder)
Disease CUI Id	C0751951
MeSH Codes	C05 C10
Disease Class Name	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
O95644	BXGT005389	Nuclear factor of activated T-cells, cytoplasmic 1	4772	reviewed	Transcription factor
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P05091	BXGT006312	Aldehyde dehydrogenase, mitochondrial	217	reviewed	Enzyme
P05231	BXGT006345	Interleukin-6	3569	reviewed
P08246	BXGT006756	Neutrophil elastase	1991	reviewed	Enzyme
P21817	BXGT008693	Ryanodine receptor 1	6261	reviewed	Ion channel
P29320	BXGT009332	Ephrin type-A receptor 3	2042	reviewed	Kinase
P54646	BXGT011062	5'-AMP-activated protein kinase catalytic subunit alpha-2	5563	reviewed	Kinase
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P62942	BXGT011474	Peptidyl-prolyl cis-trans isomerase FKBP1A	2280	reviewed	Enzyme
Q13085	BXGT013309	Acetyl-CoA carboxylase 1	31	reviewed
Q13131	BXGT013314	5'-AMP-activated protein kinase catalytic subunit alpha-1	5562	reviewed	Kinase
Q13698	BXGT013392	Voltage-dependent L-type calcium channel subunit alpha-1S	779	reviewed	Ion channel
Q14524	BXGT013478	Sodium channel protein type 5 subunit alpha	6331	reviewed	Ion channel
Q15831	BXGT013604	Serine/threonine-protein kinase STK11	6794	reviewed	Kinase
Q59H18	BXGT015278	Serine/threonine-protein kinase TNNI3K	51086	reviewed
Q76LX8	BXGT016870	A disintegrin and metalloproteinase with thrombospondin motifs 13	11093	reviewed	Enzyme
Q8WZA1	BXGT019024	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1	55624	reviewed
Q92736	BXGT019367	Ryanodine receptor 2	6262	reviewed	Ion channel
Q96EB6	BXGT019646	NAD-dependent protein deacetylase sirtuin-1	23411	reviewed	Epigenetic regulator
Q9Y259	BXGT022219	Choline/ethanolamine kinase	1120	reviewed	Kinase
Q9Y478	BXGT022271	5'-AMP-activated protein kinase subunit beta-1	5564	reviewed	Kinase
Q16552	BXGT023419	Interleukin-17A	3605	reviewed
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}