adisease

Showing entry for Pena-Shokeir syndrome type I

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD012100
Disease Name	Pena-Shokeir syndrome type I
Disease CUI Id	C1276035
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0001197
Human Phenotype Ontology Term	Abnormality of prenatal development or birth
Disease Ontology Id	DOID:630
Disease Ontology Class Name	genetic disease
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
O15146	BXGT004131	Muscle, skeletal receptor tyrosine-protein kinase	4593	reviewed	Kinase
P02708	BXGT005927	Acetylcholine receptor subunit alpha	1134	reviewed	Ion channel
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P06753	BXGT006498	Tropomyosin alpha-3 chain	7170	reviewed	Cellular structure
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P08559	BXGT006788	Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	5160	reviewed
P21817	BXGT008693	Ryanodine receptor 1	6261	reviewed	Ion channel
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P68133	BXGT011578	Actin, alpha skeletal muscle	58	reviewed	Cellular structure
Q04446	BXGT012764	1,4-alpha-glucan-branching enzyme	2632	reviewed	Enzyme
Q07001	BXGT012907	Acetylcholine receptor subunit delta	1144	reviewed	Ion channel
Q8TD19	BXGT018804	Serine/threonine-protein kinase Nek9	91754	reviewed	Kinase
Q9BVA1	BXGT020142	Tubulin beta-2B chain	347733	reviewed
Q9H3H5	BXGT020461	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	1798	reviewed	Enzyme
Q53GS7	BXGT023762	Nucleoporin GLE1	2733	reviewed	Transporter
P08123	BXGT024477	Collagen alpha-2(I) chain	1278	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}