Showing entry for Cone-Rod Dystrophy 2


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD018934
Disease NameCone-Rod Dystrophy 2
Disease CUI IdC3489532
MeSH Codes C16   C11  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease 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
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14931 BXGT004113 Natural cytotoxicity triggering receptor 3 259197 reviewed
O15379 BXGT004159 Histone deacetylase 3 8841 reviewed Epigenetic regulator
O60603 BXGT004887 Toll-like receptor 2 7097 reviewed
O60840 BXGT004901 Voltage-dependent L-type calcium channel subunit alpha-1F 778 reviewed Ion channel
O75173 BXGT005105 A disintegrin and metalloproteinase with thrombospondin motifs 4 9507 reviewed Enzyme
O75475 BXGT005130 PC4 and SFRS1-interacting protein 11168 reviewed Signaling
O75581 BXGT005136 Low-density lipoprotein receptor-related protein 6 4040 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00734 BXGT005630 Prothrombin 2147 reviewed Enzyme
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P01034 BXGT005721 Cystatin-C 1471 reviewed
P01042 BXGT005722 Kininogen-1 3827 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01138 BXGT005738 Beta-nerve growth factor 4803 reviewed Signaling
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01574 BXGT005768 Interferon beta 3456 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01911 BXGT005816 HLA class II histocompatibility antigen, DRB1-15 beta chain 3123 reviewed Immune response
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02765 BXGT005952 Alpha-2-HS-glycoprotein 197 reviewed Enzyme modulator
P04070 BXGT006143 Vitamin K-dependent protein C 5624 reviewed Enzyme
P04271 BXGT006177 Protein S100-B 6285 reviewed Calcium-binding protein
P04440 BXGT006216 HLA class II histocompatibility antigen, DP beta 1 chain 3115 reviewed Immune response
P04839 BXGT006273 Cytochrome b-245 heavy chain 1536 reviewed Ion channel
P05230 BXGT006344 Fibroblast growth factor 1 2246 reviewed Signaling
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07332 BXGT006601 Tyrosine-protein kinase Fes/Fps 2242 reviewed Kinase
P07438 BXGT006625 Metallothionein-1B 4490 reviewed
P07711 BXGT006661 Cathepsin L1 1514 reviewed Enzyme
P08100 BXGT006725 Rhodopsin 6010 reviewed G-protein coupled receptor
P08243 BXGT006755 Asparagine synthetase [glutamine-hydrolyzing] 440 reviewed Enzyme
P08575 BXGT006793 Receptor-type tyrosine-protein phosphatase C 5788 reviewed Enzyme
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P09382 BXGT006882 Galectin-1 3956 reviewed Signaling
P09429 BXGT006889 High mobility group protein B1 3146 reviewed Nucleic acid binding
P09936 BXGT006943 Ubiquitin carboxyl-terminal hydrolase isozyme L1 7345 reviewed Enzyme
P10586 BXGT007581 Receptor-type tyrosine-protein phosphatase F 5792 reviewed Enzyme
P10646 BXGT007598 Tissue factor pathway inhibitor 7035 reviewed Enzyme modulator
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P11511 BXGT007717 Aromatase 1588 reviewed Enzyme
P14174 BXGT007991 Macrophage migration inhibitory factor 4282 reviewed
P14678 BXGT008038 Small nuclear ribonucleoprotein-associated proteins B and B' 6628 reviewed Nucleic acid binding
P14784 BXGT008054 Interleukin-2 receptor subunit beta 3560 reviewed Receptor
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P17707 BXGT008331 S-adenosylmethionine decarboxylase proenzyme 262 reviewed Enzyme
P18054 BXGT008370 Arachidonate 12-lipoxygenase, 12S-type 239 reviewed Enzyme
P18850 BXGT008433 Cyclic AMP-dependent transcription factor ATF-6 alpha 22926 reviewed
P20309 BXGT008562 Muscarinic acetylcholine receptor M3 1131 reviewed G-protein coupled receptor
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P25774 BXGT009066 Cathepsin S 1520 reviewed Enzyme
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P28845 BXGT009297 Corticosteroid 11-beta-dehydrogenase isozyme 1 3290 reviewed
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P29475 BXGT009353 Nitric oxide synthase, brain 4842 reviewed
P30536 BXGT009435 Translocator protein 706 reviewed
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35367 BXGT009821 Histamine H1 receptor 3269 reviewed G-protein coupled receptor
P35610 BXGT009855 Sterol O-acyltransferase 1 6646 reviewed Enzyme
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P42224 BXGT010286 Signal transducer and activator of transcription 1-alpha/beta 6772 reviewed Nucleic acid binding
P42261 BXGT010293 Glutamate receptor 1 2890 reviewed Ion channel
P42262 BXGT010294 Glutamate receptor 2 2891 reviewed Ion channel
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43080 BXGT010354 Guanylyl cyclase-activating protein 1 2978 reviewed
P46940 BXGT010556 Ras GTPase-activating-like protein IQGAP1 8826 reviewed Enzyme modulator
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P51157 BXGT010838 Ras-related protein Rab-28 9364 reviewed
P52788 BXGT010953 Spermine synthase 6611 reviewed
P55072 BXGT011103 Transitional endoplasmic reticulum ATPase 7415 reviewed
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P55157 BXGT011108 Microsomal triglyceride transfer protein large subunit 4547 reviewed Transporter
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
P61769 BXGT011383 Beta-2-microglobulin 567 reviewed Immune response
P82279 BXGT011972 Protein crumbs homolog 1 23418 reviewed
Q07108 BXGT012919 Early activation antigen CD69 969 reviewed
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q13541 BXGT013371 Eukaryotic translation initiation factor 4E-binding protein 1 1978 reviewed Nucleic acid binding
Q14416 BXGT013468 Metabotropic glutamate receptor 2 2912 reviewed G-protein coupled receptor
Q16555 BXGT013638 Dihydropyrimidinase-related protein 2 1808 reviewed Enzyme
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q8NER1 BXGT018556 Transient receptor potential cation channel subfamily V member 1 7442 reviewed Ion channel
Q8TDS5 BXGT018813 Oxoeicosanoid receptor 1 165140 reviewed G-protein coupled receptor
Q8TDV0 BXGT018815 Probable G-protein coupled receptor 151 134391 reviewed G-protein coupled receptor
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q92945 BXGT019397 Far upstream element-binding protein 2 8570 reviewed Enzyme
Q96FE5 BXGT019657 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 84894 reviewed Receptor
Q96L92 BXGT019690 Sorting nexin-27 81609 reviewed
Q96NR8 BXGT019701 Retinol dehydrogenase 12 145226 reviewed Enzyme
Q9BYT8 BXGT020190 Neurolysin, mitochondrial 57486 reviewed Enzyme
Q9NP99 BXGT021148 Triggering receptor expressed on myeloid cells 1 54210 reviewed
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9UJU2 BXGT021730 Lymphoid enhancer-binding factor 1 51176 reviewed
Q9ULV1 BXGT021764 Frizzled-4 8322 reviewed G-protein coupled receptor
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
Q9Y286 BXGT022225 Sialic acid-binding Ig-like lectin 7 27036 reviewed Receptor
Q9Y2I1 BXGT022235 Nischarin 11188 reviewed Enzyme modulator
Q7Z3S7 BXGT022658 Voltage-dependent calcium channel subunit alpha-2/delta-4 93589 reviewed Ion channel
Q96KN7 BXGT022801 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 57096 reviewed Enzyme modulator
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
Q6P4Q7 BXGT024061 Metal transporter CNNM4 26504 reviewed
Q13432 BXGT024144 Protein unc-119 homolog A 9094 reviewed Receptor
Q9BV73 BXGT025119 Centrosome-associated protein CEP250 11190 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