Showing entry for Amaurosis congenita of Leber, type 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD017991
Disease NameAmaurosis congenita of Leber, type 1
Disease CUI IdC2931258
MeSH Codes C11  
Disease Class NameEye 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
O60840 BXGT004901 Voltage-dependent L-type calcium channel subunit alpha-1F 778 reviewed Ion channel
O75030 BXGT005096 Microphthalmia-associated transcription factor 4286 reviewed
O95237 BXGT005361 Lecithin retinol acyltransferase 9227 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P05231 BXGT006345 Interleukin-6 3569 reviewed
P08100 BXGT006725 Rhodopsin 6010 reviewed G-protein coupled receptor
P08575 BXGT006793 Receptor-type tyrosine-protein phosphatase C 5788 reviewed Enzyme
P08684 BXGT006812 Cytochrome P450 3A4 1576 reviewed Enzyme
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10745 BXGT007608 Retinol-binding protein 3 5949 reviewed
P20839 BXGT008608 Inosine-5'-monophosphate dehydrogenase 1 3614 reviewed Enzyme
P22083 BXGT008727 Alpha-(1,3)-fucosyltransferase 4 2526 reviewed Enzyme
P28908 BXGT009302 Tumor necrosis factor receptor superfamily member 8 943 reviewed
P35221 BXGT009798 Catenin alpha-1 1495 reviewed Cellular structure
P35913 BXGT009879 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 5158 reviewed
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P41182 BXGT010231 B-cell lymphoma 6 protein 604 reviewed
P43080 BXGT010354 Guanylyl cyclase-activating protein 1 2978 reviewed
P68371 BXGT011597 Tubulin beta-4B chain 10383 reviewed Cellular structure
P82279 BXGT011972 Protein crumbs homolog 1 23418 reviewed
Q00796 BXGT012549 Sorbitol dehydrogenase 6652 reviewed Enzyme
Q12866 BXGT013273 Tyrosine-protein kinase Mer 10461 reviewed Kinase
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q13501 BXGT013365 Sequestosome-1 8878 reviewed
Q15382 BXGT013563 GTP-binding protein Rheb 6009 reviewed Enzyme modulator
Q15835 BXGT013606 Rhodopsin kinase 6011 reviewed Kinase
Q8N3R9 BXGT018507 MAGUK p55 subfamily member 5 64398 reviewed Enzyme
Q96AT9 BXGT019619 Ribulose-phosphate 3-epimerase 6120 reviewed
Q96NR8 BXGT019701 Retinol dehydrogenase 12 145226 reviewed Enzyme
Q9NZN9 BXGT021280 Aryl-hydrocarbon-interacting protein-like 1 23746 reviewed Chaperone
Q9Y5K3 BXGT022294 Choline-phosphate cytidylyltransferase B 9468 reviewed
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
P11836 BXGT025994 B-lymphocyte antigen CD20 931 reviewed Receptor
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