Showing entry for Coloboma of the Retina



                               
General Disease Information
BXGD IdBXGD019092
Disease NameColoboma of the Retina
Disease CUI IdC3540764
MeSH Codes C16   C11  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0000478  
Human Phenotype Ontology TermAbnormality of the eye
Disease Ontology Id   
Disease Ontology Class Name
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
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
P02753 BXGT005945 Retinol-binding protein 4 5950 reviewed Transporter
P10276 BXGT007553 Retinoic acid receptor alpha 5914 reviewed Nuclear receptor
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P46937 BXGT010554 Transcriptional coactivator YAP1 10413 reviewed Enzyme modulator
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q96BZ9 BXGT019629 TBC1 domain family member 20 128637 reviewed
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 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