Showing entry for Kabuki make-up syndrome



                               
General Disease Information
BXGD IdBXGD010776
Disease NameKabuki make-up syndrome
Disease CUI IdC0796004
MeSH Codes C16   C09   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:225  
Disease Ontology Class Namesyndrome
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
A1Z1Q3 BXGT001069 ADP-ribose glycohydrolase MACROD2 140733 reviewed
O14607 BXGT004075 Histone demethylase UTY 7404 reviewed Transcription factor
O14733 BXGT004087 Dual specificity mitogen-activated protein kinase kinase 7 5609 reviewed Kinase
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O60341 BXGT004873 Lysine-specific histone demethylase 1A 23028 reviewed Epigenetic regulator
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P0DPH7 BXGT007527 Tubulin alpha-3C chain 7278 reviewed
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P26010 BXGT009082 Integrin beta-7 3695 reviewed Receptor
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P61224 BXGT011370 Ras-related protein Rap-1b 5908 reviewed Enzyme modulator
P61978 BXGT011399 Heterogeneous nuclear ribonucleoprotein K 3190 reviewed Enzyme
P62834 BXGT011464 Ras-related protein Rap-1A 5906 reviewed Enzyme modulator
Q01105 BXGT012569 Protein SET 6418 reviewed Enzyme modulator
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q9UBB5 BXGT021649 Methyl-CpG-binding domain protein 2 8932 reviewed Epigenetic regulator
Q9UHD8 BXGT021698 Septin-9 10801 reviewed Enzyme modulator
Q9UJ41 BXGT021723 Rab5 GDP/GTP exchange factor 27342 reviewed Enzyme modulator
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