Showing entry for Cornelia De Lange Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD006147
Disease NameCornelia De Lange Syndrome
Disease CUI IdC0270972
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7   DOID:225   DOID:150  
Disease Ontology Class Namegenetic disease; disease of anatomical entity; syndrome; disease of mental health
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O60885 BXGT004906 Bromodomain-containing protein 4 23476 reviewed Epigenetic regulator
O95271 BXGT005369 Poly [ADP-ribose] polymerase tankyrase-1 8658 reviewed
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P29373 BXGT009337 Cellular retinoic acid-binding protein 2 1382 reviewed
P49589 BXGT010714 Cysteine--tRNA ligase, cytoplasmic 833 reviewed Enzyme
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q13255 BXGT013332 Metabotropic glutamate receptor 1 2911 reviewed G-protein coupled receptor
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q8WWQ0 BXGT019003 PH-interacting protein 55023 reviewed Epigenetic regulator
Q92769 BXGT019370 Histone deacetylase 2 3066 reviewed Epigenetic regulator
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9NTI5 BXGT021212 Sister chromatid cohesion protein PDS5 homolog B 23047 reviewed Nucleic acid binding
Q9UQE7 BXGT025899 Structural maintenance of chromosomes protein 3 9126 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