Showing entry for Cleidocranial Dysplasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000576
Disease NameCleidocranial Dysplasia
Disease CUI IdC0008928
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7   DOID:0080015  
Disease Ontology Class Namegenetic disease; disease of anatomical entity; physical disorder
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
O14788 BXGT004100 Tumor necrosis factor ligand superfamily member 11 8600 reviewed Signaling
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O75751 BXGT005150 Solute carrier family 22 member 3 6581 reviewed Transporter
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P05091 BXGT006312 Aldehyde dehydrogenase, mitochondrial 217 reviewed Enzyme
P06730 BXGT006487 Eukaryotic translation initiation factor 4E 1977 reviewed Nucleic acid binding
P08246 BXGT006756 Neutrophil elastase 1991 reviewed Enzyme
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P17676 BXGT008327 CCAAT/enhancer-binding protein beta 1051 reviewed Transcription factor
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P22004 BXGT008718 Bone morphogenetic protein 6 654 reviewed Signaling
P54646 BXGT011062 5'-AMP-activated protein kinase catalytic subunit alpha-2 5563 reviewed Kinase
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q13131 BXGT013314 5'-AMP-activated protein kinase catalytic subunit alpha-1 5562 reviewed Kinase
Q13526 BXGT013369 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 5300 reviewed
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
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q9Y478 BXGT022271 5'-AMP-activated protein kinase subunit beta-1 5564 reviewed Kinase
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
Q92832 BXGT025242 Protein kinase C-binding protein NELL1 4745 reviewed Calcium-binding protein
Q8N122 BXGT026091 Regulatory-associated protein of mTOR 57521 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