Showing entry for Mandibulofacial Dysostosis


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005161
Disease NameMandibulofacial Dysostosis
Disease CUI IdC0242387
MeSH Codes C16   C11   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0000152   HP:0000924  
Human Phenotype Ontology TermAbnormality of head or neck; Abnormality of the skeletal system
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic 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
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P08133 BXGT006727 Annexin A6 309 reviewed
P09417 BXGT006888 Dihydropteridine reductase 5860 reviewed Enzyme
P09486 BXGT006897 SPARC 6678 reviewed Signaling
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P22455 BXGT008772 Fibroblast growth factor receptor 4 2264 reviewed Kinase
P23193 BXGT008834 Transcription elongation factor A protein 1 6917 reviewed Nucleic acid binding
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P32119 BXGT009600 Peroxiredoxin-2 7001 reviewed Enzyme
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P68400 BXGT011599 Casein kinase II subunit alpha 1457 reviewed Kinase
Q13618 BXGT013382 Cullin-3 8452 reviewed
Q14978 BXGT013517 Nucleolar and coiled-body phosphoprotein 1 9221 reviewed
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q99884 BXGT019973 Sodium-dependent proline transporter 6534 reviewed Transporter
Q9UQM7 BXGT021814 Calcium/calmodulin-dependent protein kinase type II subunit alpha 815 reviewed Kinase
Q9NR30 BXGT024748 Nucleolar RNA helicase 2 9188 reviewed
P62263 BXGT026033 40S ribosomal protein S14 6208 reviewed Nucleic acid binding
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