Showing entry for Congenital ocular coloboma (disorder)


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000599
Disease NameCongenital ocular coloboma (disorder)
Disease CUI IdC0009363
MeSH Codes C16   C11  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000478  
Human Phenotype Ontology TermAbnormality of the eye
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease of anatomical entity
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
O14936 BXGT004114 Peripheral plasma membrane protein CASK 8573 reviewed Kinase
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P02753 BXGT005945 Retinol-binding protein 4 5950 reviewed Transporter
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P10276 BXGT007553 Retinoic acid receptor alpha 5914 reviewed Nuclear receptor
P10826 BXGT007622 Retinoic acid receptor beta 5915 reviewed Nuclear receptor
P13796 BXGT007956 Plastin-2 3936 reviewed Cellular structure
P16435 BXGT008226 NADPH--cytochrome P450 reductase 5447 reviewed
P18075 BXGT008375 Bone morphogenetic protein 7 655 reviewed Signaling
P29400 BXGT009343 Collagen alpha-5(IV) chain 1287 reviewed
P36894 BXGT009939 Bone morphogenetic protein receptor type-1A 657 reviewed Kinase
P41182 BXGT010231 B-cell lymphoma 6 protein 604 reviewed
P46937 BXGT010554 Transcriptional coactivator YAP1 10413 reviewed Enzyme modulator
P47895 BXGT010593 Aldehyde dehydrogenase family 1 member A3 220 reviewed Enzyme
P49419 BXGT010705 Alpha-aminoadipic semialdehyde dehydrogenase 501 reviewed Enzyme
P55201 BXGT011109 Peregrin 7862 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60880 BXGT011335 Synaptosomal-associated protein 25 6616 reviewed Transporter
P61224 BXGT011370 Ras-related protein Rap-1b 5908 reviewed Enzyme modulator
P62834 BXGT011464 Ras-related protein Rap-1A 5906 reviewed Enzyme modulator
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
Q00604 BXGT012538 Norrin 4693 reviewed
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q09472 BXGT013038 Histone acetyltransferase p300 2033 reviewed
Q12882 BXGT013276 Dihydropyrimidine dehydrogenase [NADP(+)] 1806 reviewed Enzyme
Q13467 BXGT013358 Frizzled-5 7855 reviewed G-protein coupled receptor
Q13547 BXGT013373 Histone deacetylase 1 3065 reviewed Epigenetic regulator
Q14160 BXGT013450 Protein scribble homolog 23513 reviewed
Q16678 BXGT013656 Cytochrome P450 1B1 1545 reviewed Enzyme
Q4KMG0 BXGT014850 Cell adhesion molecule-related/down-regulated by oncogenes 50937 reviewed
Q5NUL3 BXGT015621 Free fatty acid receptor 4 338557 reviewed
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q92793 BXGT019374 CREB-binding protein 1387 reviewed
Q99496 BXGT019925 E3 ubiquitin-protein ligase RING2 6045 reviewed
Q99835 BXGT019969 Smoothened homolog 6608 reviewed G-protein coupled receptor
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
Q9UBV7 BXGT021665 Beta-1,4-galactosyltransferase 7 11285 reviewed
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q7Z4S6 BXGT023001 Kinesin-like protein KIF21A 55605 reviewed Cellular structure
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
A6NHR9 BXGT024875 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 23347 reviewed
P02489 BXGT026168 Alpha-crystallin A chain 1409 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