Showing entry for Cortical visual impairment


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD021896
Disease NameCortical visual impairment
Disease CUI IdC4048268
MeSH Codes C23   C11   C10  
Disease Class NamePathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Semantic TypePathologic Function
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
O15399 BXGT004164 Glutamate receptor ionotropic, NMDA 2D 2906 reviewed Ion channel
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
P00156 BXGT005469 Cytochrome b 4519 reviewed
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03915 BXGT006114 NADH-ubiquinone oxidoreductase chain 5 4540 reviewed Enzyme
P03923 BXGT006115 NADH-ubiquinone oxidoreductase chain 6 4541 reviewed
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P12235 BXGT007774 ADP/ATP translocase 1 291 reviewed Transporter
P15311 BXGT008106 Ezrin 7430 reviewed Cellular structure
P17050 BXGT008277 Alpha-N-acetylgalactosaminidase 4668 reviewed
P18505 BXGT008409 Gamma-aminobutyric acid receptor subunit beta-1 2560 reviewed Ion channel
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P37268 BXGT009975 Squalene synthase 2222 reviewed
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P47870 BXGT010591 Gamma-aminobutyric acid receptor subunit beta-2 2561 reviewed Ion channel
P49591 BXGT010715 Serine--tRNA ligase, cytoplasmic 6301 reviewed Enzyme
P50135 BXGT010776 Histamine N-methyltransferase 3176 reviewed
P52565 BXGT010933 Rho GDP-dissociation inhibitor 1 396 reviewed Enzyme modulator
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P63027 BXGT011487 Vesicle-associated membrane protein 2 6844 reviewed
Q00975 BXGT012558 Voltage-dependent N-type calcium channel subunit alpha-1B 774 reviewed Ion channel
Q01668 BXGT012605 Voltage-dependent L-type calcium channel subunit alpha-1D 776 reviewed Ion channel
Q11203 BXGT013218 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase 6487 reviewed
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q12840 BXGT013269 Kinesin heavy chain isoform 5A 3798 reviewed Cellular structure
Q13002 BXGT013303 Glutamate receptor ionotropic, kainate 2 2898 reviewed Ion channel
Q13224 BXGT013328 Glutamate receptor ionotropic, NMDA 2B 2904 reviewed Ion channel
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q13936 BXGT013404 Voltage-dependent L-type calcium channel subunit alpha-1C 775 reviewed Ion channel
Q15858 BXGT013610 Sodium channel protein type 9 subunit alpha 6335 reviewed Ion channel
Q7L3T8 BXGT016994 Probable proline--tRNA ligase, mitochondrial 25973 reviewed Enzyme
Q7LG56 BXGT016999 Ribonucleoside-diphosphate reductase subunit M2 B 50484 reviewed Enzyme
Q92794 BXGT019375 Histone acetyltransferase KAT6A 7994 reviewed Enzyme
Q96BZ9 BXGT019629 TBC1 domain family member 20 128637 reviewed
Q96I59 BXGT019675 Probable asparagine--tRNA ligase, mitochondrial 79731 reviewed Enzyme
Q96RE7 BXGT019725 Nucleus accumbens-associated protein 1 112939 reviewed
Q96SW2 BXGT019743 Protein cereblon 51185 reviewed Enzyme
Q9GZZ9 BXGT020430 Ubiquitin-like modifier-activating enzyme 5 79876 reviewed Enzyme
Q9HD40 BXGT020542 O-phosphoseryl-tRNA(Sec) selenium transferase 51091 reviewed
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NXG6 BXGT021246 Transmembrane prolyl 4-hydroxylase 54681 reviewed
Q9UGL1 BXGT021685 Lysine-specific demethylase 5B 10765 reviewed Epigenetic regulator
Q9UGM6 BXGT021687 Tryptophan--tRNA ligase, mitochondrial 10352 reviewed
Q9UKE5 BXGT021741 TRAF2 and NCK-interacting protein kinase 23043 reviewed Kinase
Q9UKM7 BXGT021747 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 11253 reviewed Chaperone
Q9Y5P4 BXGT022298 Collagen type IV alpha-3-binding protein 10087 reviewed Transporter
Q15878 BXGT022659 Voltage-dependent R-type calcium channel subunit alpha-1E 777 reviewed Ion channel
Q96C86 BXGT022803 m7GpppX diphosphatase 28960 reviewed Enzyme
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 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