Showing entry for Optic Atrophy, Hereditary, Leber


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD011408
Disease NameOptic Atrophy, Hereditary, Leber
Disease CUI IdC0917796
MeSH Codes C16   C18   C11   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; 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: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
O00142 BXGT003883 Thymidine kinase 2, mitochondrial 7084 reviewed Kinase
O15239 BXGT004139 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 4694 reviewed
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
O75306 BXGT005108 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial 4720 reviewed Enzyme
O95237 BXGT005361 Lecithin retinol acyltransferase 9227 reviewed
P00156 BXGT005469 Cytochrome b 4519 reviewed
P00390 BXGT005526 Glutathione reductase, mitochondrial 2936 reviewed Enzyme
P00846 BXGT005674 ATP synthase subunit a 4508 reviewed Transporter
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01889 BXGT005809 HLA class I histocompatibility antigen, B-7 alpha chain 3106 reviewed
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03891 BXGT006110 NADH-ubiquinone oxidoreductase chain 2 4536 reviewed
P03901 BXGT006112 NADH-ubiquinone oxidoreductase chain 4L 4539 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
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04179 BXGT006163 Superoxide dismutase [Mn], mitochondrial 6648 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07099 BXGT006546 Epoxide hydrolase 1 2052 reviewed
P09104 BXGT006856 Gamma-enolase 2026 reviewed Enzyme
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10636 BXGT007596 Microtubule-associated protein tau 4137 reviewed
P10646 BXGT007598 Tissue factor pathway inhibitor 7035 reviewed Enzyme modulator
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13645 BXGT007936 Keratin, type I cytoskeletal 10 3858 reviewed
P15121 BXGT008083 Aldo-keto reductase family 1 member B1 231 reviewed Enzyme
P17707 BXGT008331 S-adenosylmethionine decarboxylase proenzyme 262 reviewed Enzyme
P19440 BXGT008481 Glutathione hydrolase 1 proenzyme 2678 reviewed Enzyme
P28676 BXGT009284 Grancalcin 25801 reviewed
P35498 BXGT009838 Sodium channel protein type 1 subunit alpha 6323 reviewed Ion channel
P36551 BXGT009927 Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial 1371 reviewed Enzyme
P42261 BXGT010293 Glutamate receptor 1 2890 reviewed Ion channel
P42262 BXGT010294 Glutamate receptor 2 2891 reviewed Ion channel
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P48506 BXGT010635 Glutamate--cysteine ligase catalytic subunit 2729 reviewed Enzyme
P52209 BXGT010923 6-phosphogluconate dehydrogenase, decarboxylating 5226 reviewed Enzyme
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q00059 BXGT012512 Transcription factor A, mitochondrial 7019 reviewed
Q08257 BXGT012975 Quinone oxidoreductase 1429 reviewed
Q14416 BXGT013468 Metabotropic glutamate receptor 2 2912 reviewed G-protein coupled receptor
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q92731 BXGT019366 Estrogen receptor beta 2100 reviewed Nuclear receptor
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q9BV57 BXGT020140 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase 55256 reviewed Enzyme
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
Q9Y2Z4 BXGT022251 Tyrosine--tRNA ligase, mitochondrial 51067 reviewed Enzyme
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
Q96KN7 BXGT022801 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 57096 reviewed Enzyme modulator
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
O95140 BXGT024482 Mitofusin-2 9927 reviewed Enzyme
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 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