Showing entry for Color vision defect


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000604
Disease NameColor vision defect
Disease CUI IdC0009398
MeSH Codes C23   C11   C10  
Disease Class NamePathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0000478  
Human Phenotype Ontology TermAbnormality of the eye
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
O00429 BXGT003919 Dynamin-1-like protein 10059 reviewed Enzyme modulator
O43464 BXGT004595 Serine protease HTRA2, mitochondrial 27429 reviewed
O43781 BXGT004625 Dual specificity tyrosine-phosphorylation-regulated kinase 3 8444 reviewed Kinase
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
O60840 BXGT004901 Voltage-dependent L-type calcium channel subunit alpha-1F 778 reviewed Ion channel
P09936 BXGT006943 Ubiquitin carboxyl-terminal hydrolase isozyme L1 7345 reviewed Enzyme
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P12271 BXGT007786 Retinaldehyde-binding protein 1 6017 reviewed Transporter
P18850 BXGT008433 Cyclic AMP-dependent transcription factor ATF-6 alpha 22926 reviewed
P22748 BXGT008802 Carbonic anhydrase 4 762 reviewed
P37840 BXGT010015 Alpha-synuclein 6622 reviewed Transporter
P40967 BXGT010212 Melanocyte protein PMEL 6490 reviewed Signaling
P43080 BXGT010354 Guanylyl cyclase-activating protein 1 2978 reviewed
P49585 BXGT010712 Choline-phosphate cytidylyltransferase A 5130 reviewed
P51157 BXGT010838 Ras-related protein Rab-28 9364 reviewed
P51160 BXGT010840 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 5146 reviewed
Q00653 BXGT012541 Nuclear factor NF-kappa-B p100 subunit 4791 reviewed Transcription factor
Q15020 BXGT013522 Squamous cell carcinoma antigen recognized by T-cells 3 9733 reviewed Nucleic acid binding
Q16828 BXGT013676 Dual specificity protein phosphatase 6 1848 reviewed
Q5S007 BXGT015650 Leucine-rich repeat serine/threonine-protein kinase 2 120892 reviewed Kinase
Q7KZF4 BXGT016989 Staphylococcal nuclease domain-containing protein 1 27044 reviewed Transcription factor
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q99497 BXGT019926 Protein/nucleic acid deglycase DJ-1 11315 reviewed Enzyme
Q9BXM7 BXGT020172 Serine/threonine-protein kinase PINK1, mitochondrial 65018 reviewed Kinase
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9ULW0 BXGT021766 Targeting protein for Xklp2 22974 reviewed Cellular structure
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
P43146 BXGT022852 Netrin receptor DCC 1630 reviewed
Q6P4Q7 BXGT024061 Metal transporter CNNM4 26504 reviewed
Q13432 BXGT024144 Protein unc-119 homolog A 9094 reviewed Receptor
O95140 BXGT024482 Mitofusin-2 9927 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