Showing entry for Abnormality of retinal pigmentation


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD016132
Disease NameAbnormality of retinal pigmentation
Disease CUI IdC1862475
MeSH Codes   
Disease Class Name
Semantic TypeFinding
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
O00444 BXGT003921 Serine/threonine-protein kinase PLK4 10733 reviewed Kinase
O14832 BXGT004104 Phytanoyl-CoA dioxygenase, peroxisomal 5264 reviewed
O60840 BXGT004901 Voltage-dependent L-type calcium channel subunit alpha-1F 778 reviewed Ion channel
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
O75643 BXGT005142 U5 small nuclear ribonucleoprotein 200 kDa helicase 23020 reviewed
O95237 BXGT005361 Lecithin retinol acyltransferase 9227 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
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
P08100 BXGT006725 Rhodopsin 6010 reviewed G-protein coupled receptor
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
P10745 BXGT007608 Retinol-binding protein 3 5949 reviewed
P12271 BXGT007786 Retinaldehyde-binding protein 1 6017 reviewed Transporter
P12955 BXGT007865 Xaa-Pro dipeptidase 5184 reviewed Enzyme
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P16499 BXGT008238 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 5145 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P18850 BXGT008433 Cyclic AMP-dependent transcription factor ATF-6 alpha 22926 reviewed
P20794 BXGT008600 Serine/threonine-protein kinase MAK 4117 reviewed Kinase
P20839 BXGT008608 Inosine-5'-monophosphate dehydrogenase 1 3614 reviewed Enzyme
P22223 BXGT008744 Cadherin-3 1001 reviewed
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P22748 BXGT008802 Carbonic anhydrase 4 762 reviewed
P24530 BXGT008975 Endothelin receptor type B 1910 reviewed G-protein coupled receptor
P29973 BXGT009389 cGMP-gated cation channel alpha-1 1259 reviewed Ion channel
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P35869 BXGT009877 Aryl hydrocarbon receptor 196 reviewed Transcription factor
P35913 BXGT009879 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 5158 reviewed
P43080 BXGT010354 Guanylyl cyclase-activating protein 1 2978 reviewed
P49585 BXGT010712 Choline-phosphate cytidylyltransferase A 5130 reviewed
P49638 BXGT010720 Alpha-tocopherol transfer protein 7274 reviewed Transporter
P50213 BXGT010779 Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial 3419 reviewed Enzyme
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P51157 BXGT010838 Ras-related protein Rab-28 9364 reviewed
P51160 BXGT010840 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 5146 reviewed
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P51955 BXGT010908 Serine/threonine-protein kinase Nek2 4751 reviewed Kinase
P52732 BXGT010948 Kinesin-like protein KIF11 3832 reviewed Cellular structure
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
P82279 BXGT011972 Protein crumbs homolog 1 23418 reviewed
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q12866 BXGT013273 Tyrosine-protein kinase Mer 10461 reviewed Kinase
Q14191 BXGT013452 Werner syndrome ATP-dependent helicase 7486 reviewed Enzyme
Q6P2Q9 BXGT016446 Pre-mRNA-processing-splicing factor 8 10594 reviewed Nucleic acid binding
Q7LG56 BXGT016999 Ribonucleoside-diphosphate reductase subunit M2 B 50484 reviewed Enzyme
Q7Z494 BXGT017254 Nephrocystin-3 27031 reviewed
Q8NBK3 BXGT018538 Formylglycine-generating enzyme 285362 reviewed
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q8WWY3 BXGT019006 U4/U6 small nuclear ribonucleoprotein Prp31 26121 reviewed Nucleic acid binding
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q96BZ9 BXGT019629 TBC1 domain family member 20 128637 reviewed
Q96NR8 BXGT019701 Retinol dehydrogenase 12 145226 reviewed Enzyme
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NX14 BXGT021242 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial 54539 reviewed Enzyme
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9UGJ1 BXGT021684 Gamma-tubulin complex component 4 27229 reviewed Cellular structure
Q9Y5X4 BXGT022306 Photoreceptor-specific nuclear receptor 10002 reviewed Nuclear receptor
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
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q6P4Q7 BXGT024061 Metal transporter CNNM4 26504 reviewed
Q13432 BXGT024144 Protein unc-119 homolog A 9094 reviewed Receptor
Q96JJ3 BXGT024291 Engulfment and cell motility protein 2 63916 reviewed Signaling
O43837 BXGT024635 Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial 3420 reviewed Enzyme
P28715 BXGT025675 DNA repair protein complementing XP-G cells 2073 reviewed
Q86SQ9 BXGT025875 Dehydrodolichyl diphosphate synthase complex subunit DHDDS 79947 reviewed Enzyme
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 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