Showing entry for Leber Congenital Amaurosis


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD007260
Disease NameLeber Congenital Amaurosis
Disease CUI IdC0339527
MeSH Codes C11  
Disease Class NameEye Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease 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
O15303 BXGT004150 Metabotropic glutamate receptor 6 2916 reviewed G-protein coupled receptor
O95237 BXGT005361 Lecithin retinol acyltransferase 9227 reviewed
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P03905 BXGT006113 NADH-ubiquinone oxidoreductase chain 4 4538 reviewed Enzyme
P08575 BXGT006793 Receptor-type tyrosine-protein phosphatase C 5788 reviewed Enzyme
P09104 BXGT006856 Gamma-enolase 2026 reviewed Enzyme
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P16499 BXGT008238 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 5145 reviewed
P19883 BXGT008528 Follistatin 10468 reviewed Enzyme modulator
P20839 BXGT008608 Inosine-5'-monophosphate dehydrogenase 1 3614 reviewed Enzyme
P35913 BXGT009879 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 5158 reviewed
P36955 BXGT009946 Pigment epithelium-derived factor 5176 reviewed Enzyme modulator
P40394 BXGT010178 Alcohol dehydrogenase class 4 mu/sigma chain 131 reviewed Enzyme
P43080 BXGT010354 Guanylyl cyclase-activating protein 1 2978 reviewed
P49585 BXGT010712 Choline-phosphate cytidylyltransferase A 5130 reviewed
P82279 BXGT011972 Protein crumbs homolog 1 23418 reviewed
Q12866 BXGT013273 Tyrosine-protein kinase Mer 10461 reviewed Kinase
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q6P2Q9 BXGT016446 Pre-mRNA-processing-splicing factor 8 10594 reviewed Nucleic acid binding
Q8N3R9 BXGT018507 MAGUK p55 subfamily member 5 64398 reviewed Enzyme
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q96NR8 BXGT019701 Retinol dehydrogenase 12 145226 reviewed Enzyme
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9UPZ9 BXGT021804 Serine/threonine-protein kinase ICK 22858 reviewed Kinase
Q9Y5X4 BXGT022306 Photoreceptor-specific nuclear receptor 10002 reviewed Nuclear receptor
Q96KN7 BXGT022801 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 57096 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