Showing entry for Rod-Cone Dystrophy


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD023398
Disease NameRod-Cone Dystrophy
Disease CUI IdC4551714
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
O14832 BXGT004104 Phytanoyl-CoA dioxygenase, peroxisomal 5264 reviewed
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O60840 BXGT004901 Voltage-dependent L-type calcium channel subunit alpha-1F 778 reviewed Ion channel
O75643 BXGT005142 U5 small nuclear ribonucleoprotein 200 kDa helicase 23020 reviewed
O95237 BXGT005361 Lecithin retinol acyltransferase 9227 reviewed
P00846 BXGT005674 ATP synthase subunit a 4508 reviewed Transporter
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03891 BXGT006110 NADH-ubiquinone oxidoreductase chain 2 4536 reviewed
P03897 BXGT006111 NADH-ubiquinone oxidoreductase chain 3 4537 reviewed
P03905 BXGT006113 NADH-ubiquinone oxidoreductase chain 4 4538 reviewed Enzyme
P03915 BXGT006114 NADH-ubiquinone oxidoreductase chain 5 4540 reviewed Enzyme
P03923 BXGT006115 NADH-ubiquinone oxidoreductase chain 6 4541 reviewed
P07339 BXGT006604 Cathepsin D 1509 reviewed Enzyme
P08100 BXGT006725 Rhodopsin 6010 reviewed G-protein coupled receptor
P08575 BXGT006793 Receptor-type tyrosine-protein phosphatase C 5788 reviewed Enzyme
P10745 BXGT007608 Retinol-binding protein 3 5949 reviewed
P10809 BXGT007617 60 kDa heat shock protein, mitochondrial 3329 reviewed
P11488 BXGT007713 Guanine nucleotide-binding protein G(t) subunit alpha-1 2779 reviewed Enzyme modulator
P16499 BXGT008238 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 5145 reviewed
P20794 BXGT008600 Serine/threonine-protein kinase MAK 4117 reviewed Kinase
P20839 BXGT008608 Inosine-5'-monophosphate dehydrogenase 1 3614 reviewed Enzyme
P22748 BXGT008802 Carbonic anhydrase 4 762 reviewed
P29973 BXGT009389 cGMP-gated cation channel alpha-1 1259 reviewed Ion channel
P35869 BXGT009877 Aryl hydrocarbon receptor 196 reviewed Transcription factor
P35913 BXGT009879 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 5158 reviewed
P38435 BXGT010040 Vitamin K-dependent gamma-carboxylase 2677 reviewed
P43080 BXGT010354 Guanylyl cyclase-activating protein 1 2978 reviewed
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P51157 BXGT010838 Ras-related protein Rab-28 9364 reviewed
P51955 BXGT010908 Serine/threonine-protein kinase Nek2 4751 reviewed Kinase
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P82279 BXGT011972 Protein crumbs homolog 1 23418 reviewed
Q12840 BXGT013269 Kinesin heavy chain isoform 5A 3798 reviewed Cellular structure
Q12866 BXGT013273 Tyrosine-protein kinase Mer 10461 reviewed Kinase
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q15067 BXGT013532 Peroxisomal acyl-coenzyme A oxidase 1 51 reviewed Enzyme
Q16644 BXGT013647 MAP kinase-activated protein kinase 3 7867 reviewed Kinase
Q16795 BXGT013671 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial 4704 reviewed Enzyme
Q495M9 BXGT014765 Usher syndrome type-1G protein 124590 reviewed
Q6P2Q9 BXGT016446 Pre-mRNA-processing-splicing factor 8 10594 reviewed Nucleic acid binding
Q6UX04 BXGT016571 Spliceosome-associated protein CWC27 homolog 10283 reviewed Enzyme
Q8WWY3 BXGT019006 U4/U6 small nuclear ribonucleoprotein Prp31 26121 reviewed Nucleic acid binding
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q96NR8 BXGT019701 Retinol dehydrogenase 12 145226 reviewed Enzyme
Q96QU1 BXGT019721 Protocadherin-15 65217 reviewed
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q9BXJ0 BXGT020169 Complement C1q tumor necrosis factor-related protein 5 114902 reviewed
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9H251 BXGT020449 Cadherin-23 64072 reviewed
Q9H8P0 BXGT020497 Polyprenol reductase 79644 reviewed
Q9NRF2 BXGT021185 SH2B adapter protein 1 25970 reviewed
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
Q9Y5X4 BXGT022306 Photoreceptor-specific nuclear receptor 10002 reviewed Nuclear receptor
Q9Y6N9 BXGT022337 Harmonin 10083 reviewed Cellular structure
Q96KN7 BXGT022801 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 57096 reviewed Enzyme modulator
Q6P4Q7 BXGT024061 Metal transporter CNNM4 26504 reviewed
Q13432 BXGT024144 Protein unc-119 homolog A 9094 reviewed Receptor
O43837 BXGT024635 Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial 3420 reviewed Enzyme
Q9BV73 BXGT025119 Centrosome-associated protein CEP250 11190 reviewed Enzyme modulator
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
O43172 BXGT026158 U4/U6 small nuclear ribonucleoprotein Prp4 9128 reviewed Nucleic acid binding
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