Showing entry for Mitochondrial DNA mutation


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD011539
Disease NameMitochondrial DNA mutation
Disease CUI IdC0948444
MeSH Codes   
Disease Class Name
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
P00156 BXGT005469 Cytochrome b 4519 reviewed
P01308 BXGT005749 Insulin 3630 reviewed
P03891 BXGT006110 NADH-ubiquinone oxidoreductase chain 2 4536 reviewed
P03897 BXGT006111 NADH-ubiquinone oxidoreductase chain 3 4537 reviewed
P03905 BXGT006113 NADH-ubiquinone oxidoreductase chain 4 4538 reviewed Enzyme
P03923 BXGT006115 NADH-ubiquinone oxidoreductase chain 6 4541 reviewed
P19793 BXGT008515 Retinoic acid receptor RXR-alpha 6256 reviewed Nuclear receptor
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P35219 BXGT009797 Carbonic anhydrase-related protein 767 reviewed
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P52209 BXGT010923 6-phosphogluconate dehydrogenase, decarboxylating 5226 reviewed Enzyme
P55087 BXGT011105 Aquaporin-4 361 reviewed Ion channel
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9Y2Z4 BXGT022251 Tyrosine--tRNA ligase, mitochondrial 51067 reviewed Enzyme
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 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