Showing entry for Metaphyseal chondrodysplasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005503
Disease NameMetaphyseal chondrodysplasia
Disease CUI IdC0265290
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0040064   HP:0000924  
Human Phenotype Ontology TermAbnormality of limbs; Abnormality of the skeletal system
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
O95831 BXGT005399 Apoptosis-inducing factor 1, mitochondrial 9131 reviewed Enzyme
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P17861 BXGT008348 X-box-binding protein 1 7494 reviewed
P18850 BXGT008433 Cyclic AMP-dependent transcription factor ATF-6 alpha 22926 reviewed
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P36969 BXGT009949 Phospholipid hydroperoxide glutathione peroxidase 2879 reviewed Enzyme
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P61011 BXGT011346 Signal recognition particle 54 kDa protein 6729 reviewed Nucleic acid binding
Q03431 BXGT012714 Parathyroid hormone/parathyroid hormone-related peptide receptor 5745 reviewed G-protein coupled receptor
Q03692 BXGT012735 Collagen alpha-1(X) chain 1300 reviewed Extracellular structure
Q6UX04 BXGT016571 Spliceosome-associated protein CWC27 homolog 10283 reviewed Enzyme
Q9H0K1 BXGT020438 Serine/threonine-protein kinase SIK2 23235 reviewed Kinase
Q9UBN7 BXGT021658 Histone deacetylase 6 10013 reviewed Epigenetic regulator
Q9Y2K2 BXGT022238 Serine/threonine-protein kinase SIK3 23387 reviewed Kinase
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