Showing entry for ABLEPHARON-MACROSTOMIA SYNDROME


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015967
Disease NameABLEPHARON-MACROSTOMIA SYNDROME
Disease CUI IdC1860224
MeSH Codes C16   C11   C07  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:225  
Disease Ontology Class Namegenetic disease; syndrome
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
P01019 BXGT005717 Angiotensinogen 183 reviewed Enzyme modulator
P01042 BXGT005722 Kininogen-1 3827 reviewed Enzyme modulator
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07550 BXGT006636 Beta-2 adrenergic receptor 154 reviewed G-protein coupled receptor
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P21673 BXGT008676 Diamine acetyltransferase 1 6303 reviewed
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P30411 BXGT009424 B2 bradykinin receptor 624 reviewed G-protein coupled receptor
P34932 BXGT009772 Heat shock 70 kDa protein 4 3308 reviewed
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P46663 BXGT010531 B1 bradykinin receptor 623 reviewed G-protein coupled receptor
P63244 BXGT011510 Receptor of activated protein C kinase 1 10399 reviewed
P80075 BXGT011876 C-C motif chemokine 8 6355 reviewed Signaling
P98177 BXGT012232 Forkhead box protein O4 4303 reviewed
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q99814 BXGT019965 Endothelial PAS domain-containing protein 1 2034 reviewed Transcription factor
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9GZT9 BXGT020425 Egl nine homolog 1 54583 reviewed
Q9NWT6 BXGT021234 Hypoxia-inducible factor 1-alpha inhibitor 55662 reviewed
P00738 BXGT022874 Haptoglobin 3240 reviewed Enzyme
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