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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency
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Accession:DOID:0060286 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)
Synonyms:xref: GARD:12893;   OMIM:PS609060
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936476 15,772,203 15,784,316 RGD:9068941
G Aifm1 apoptosis inducing factor mitochondria associated 1 JBrowse link NW_004936479 1,441,508 1,477,133 RGD:9068941
G Avil advillin JBrowse link NW_004936646 1,930,447 1,952,069 RGD:9068941
G Copb2 COPI coat complex subunit beta 2 JBrowse link NW_004936540 1,467,169 1,493,218 RGD:9068941
G CUNH12orf65 chromosome unknown C12orf65 homolog JBrowse link NW_004936558 1,470,781 1,482,885 RGD:9068941
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936501 8,190,466 8,209,320 RGD:9068941
G Gfm1 G elongation factor mitochondrial 1 JBrowse link NW_004936519 5,245,202 5,292,426 RGD:9068941
G Mphosph9 M-phase phosphoprotein 9 JBrowse link NW_004936558 1,483,112 1,536,804 RGD:9068941
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link NW_004936521 5,785,819 5,787,402 RGD:9068941
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link NW_004936540 1,451,882 1,466,569 RGD:9068941
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link NW_004936859 757,977 788,073 RGD:9068941
G Rab33a RAB33A, member RAS oncogene family JBrowse link NW_004936479 1,425,765 1,437,338 RGD:9068941
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link NW_004936646 1,919,326 1,936,694 RGD:9068941
G Tufm Tu translation elongation factor, mitochondrial JBrowse link NW_004936501 11,859,558 11,863,689 RGD:9068941
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm1 G elongation factor mitochondrial 1 JBrowse link NW_004936519 5,245,202 5,292,426 RGD:7240710
RGD:9068941
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link NW_004936569 5,625,293 5,634,151 RGD:9068941
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link NW_004936540 1,451,882 1,466,569 RGD:9068941
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936498 6,967,277 7,108,130 RGD:9068941
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936837 552,837 565,348 RGD:9068941
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link NW_004936859 757,977 788,073 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rmnd1 required for meiotic nuclear division 1 homolog JBrowse link NW_004936489 4,299,810 4,343,996 RGD:7240710
RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004936595 919,807 935,367 RGD:9068941
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936501 8,190,466 8,209,320 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link NW_004936491 1,989,429 2,032,430 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936534 6,703,760 7,205,204 RGD:7240710
RGD:9068941
G Lyrm4 LYR motif containing 4 JBrowse link NW_004936534 7,205,538 7,350,114 RGD:9068941
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link NW_004936471 25,334,544 25,352,520 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link NW_004936569 5,625,293 5,634,151 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elac2 elaC ribonuclease Z 2 JBrowse link NW_004936595 5,543,476 5,565,075 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sfxn4 sideroflexin 4 JBrowse link NW_004936486 8,577,510 8,594,812 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyrm4 LYR motif containing 4 JBrowse link NW_004936534 7,205,538 7,350,114 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link NW_004936521 5,785,819 5,787,402 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936837 552,837 565,348 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tars2 threonyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936580 731,884 750,121 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link NW_004936517 743,036 752,836 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtpbp3 GTP binding protein 3, mitochondrial JBrowse link NW_004936596 3,527,903 3,532,931 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936498 6,967,277 7,108,130 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936506 1,550,068 1,552,776 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt5 tRNA methyltransferase 5 JBrowse link NW_004936495 5,131,642 5,137,998 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936472 2,144,407 2,180,431 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a26 solute carrier family 25 member 26 JBrowse link NW_004936637 239,416 371,635 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Txn2 thioredoxin 2 JBrowse link NW_004936492 4,310,394 4,320,714 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link NW_004936646 1,919,326 1,936,694 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit JBrowse link NW_004936630 1,823,045 1,827,050 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mipep mitochondrial intermediate peptidase JBrowse link NW_004936688 1,592,810 1,736,896 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link NW_004936694 2,220,492 2,221,716 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qbp complement C1q binding protein JBrowse link NW_004936677 2,371,400 2,376,608 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps7 mitochondrial ribosomal protein S7 JBrowse link NW_004936594 548,480 552,026 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trit1 tRNA isopentenyltransferase 1 JBrowse link NW_004936474 21,689,411 21,739,770 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps2 mitochondrial ribosomal protein S2 JBrowse link NW_004936669 2,064,046 2,066,136 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Micos13 mitochondrial contact site and cristae organizing system subunit 13 JBrowse link NW_004936588 3,256,619 3,258,589 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps14 mitochondrial ribosomal protein S14 JBrowse link NW_004936481 13,192,030 13,195,812 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 JBrowse link NW_004936549 1,873,700 1,918,371 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tufm Tu translation elongation factor, mitochondrial JBrowse link NW_004936501 11,859,558 11,863,689 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat complex subunit beta 2 JBrowse link NW_004936540 1,467,169 1,493,218 RGD:9068941
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link NW_004936540 1,451,882 1,466,569 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor mitochondria associated 1 JBrowse link NW_004936479 1,441,508 1,477,133 RGD:7240710
RGD:9068941
G Rab33a RAB33A, member RAS oncogene family JBrowse link NW_004936479 1,425,765 1,437,338 RGD:9068941
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CUNH12orf65 chromosome unknown C12orf65 homolog JBrowse link NW_004936558 1,470,781 1,482,885 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004936476 15,772,203 15,784,316 RGD:7240710
RGD:9068941
G Sdhd succinate dehydrogenase complex subunit D JBrowse link NW_004936612 2,357,336 2,369,204 RGD:9068941
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl3 mitochondrial ribosomal protein L3 JBrowse link NW_004936529 4,884,795 4,925,093 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11454
    Nutritional and Metabolic Diseases 3179
      disease of metabolism 3179
        mitochondrial metabolism disease 297
          combined oxidative phosphorylation deficiency 45
            combined oxidative phosphorylation deficiency 1 5
            combined oxidative phosphorylation deficiency 10 1
            combined oxidative phosphorylation deficiency 11 2
            combined oxidative phosphorylation deficiency 12 1
            combined oxidative phosphorylation deficiency 13 1
            combined oxidative phosphorylation deficiency 14 2
            combined oxidative phosphorylation deficiency 15 1
            combined oxidative phosphorylation deficiency 16 1
            combined oxidative phosphorylation deficiency 17 1
            combined oxidative phosphorylation deficiency 18 1
            combined oxidative phosphorylation deficiency 19 1
            combined oxidative phosphorylation deficiency 2 1
            combined oxidative phosphorylation deficiency 20 1
            combined oxidative phosphorylation deficiency 21 1
            combined oxidative phosphorylation deficiency 22 1
            combined oxidative phosphorylation deficiency 23 1
            combined oxidative phosphorylation deficiency 24 1
            combined oxidative phosphorylation deficiency 25 1
            combined oxidative phosphorylation deficiency 26 1
            combined oxidative phosphorylation deficiency 27 1
            combined oxidative phosphorylation deficiency 28 1
            combined oxidative phosphorylation deficiency 29 1
            combined oxidative phosphorylation deficiency 3 1
            combined oxidative phosphorylation deficiency 30 1
            combined oxidative phosphorylation deficiency 31 1
            combined oxidative phosphorylation deficiency 32 1
            combined oxidative phosphorylation deficiency 33 1
            combined oxidative phosphorylation deficiency 34 1
            combined oxidative phosphorylation deficiency 35 1
            combined oxidative phosphorylation deficiency 36 1
            combined oxidative phosphorylation deficiency 37 1
            combined oxidative phosphorylation deficiency 38 1
            combined oxidative phosphorylation deficiency 39 1
            combined oxidative phosphorylation deficiency 4 1
            combined oxidative phosphorylation deficiency 5 2
            combined oxidative phosphorylation deficiency 6 2
            combined oxidative phosphorylation deficiency 7 1
            combined oxidative phosphorylation deficiency 8 2
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 11454
    Developmental Diseases 8019
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6946
        genetic disease 6481
          inherited metabolic disorder 1628
            mitochondrial metabolism disease 297
              combined oxidative phosphorylation deficiency 45
                combined oxidative phosphorylation deficiency 1 5
                combined oxidative phosphorylation deficiency 10 1
                combined oxidative phosphorylation deficiency 11 2
                combined oxidative phosphorylation deficiency 12 1
                combined oxidative phosphorylation deficiency 13 1
                combined oxidative phosphorylation deficiency 14 2
                combined oxidative phosphorylation deficiency 15 1
                combined oxidative phosphorylation deficiency 16 1
                combined oxidative phosphorylation deficiency 17 1
                combined oxidative phosphorylation deficiency 18 1
                combined oxidative phosphorylation deficiency 19 1
                combined oxidative phosphorylation deficiency 2 1
                combined oxidative phosphorylation deficiency 20 1
                combined oxidative phosphorylation deficiency 21 1
                combined oxidative phosphorylation deficiency 22 1
                combined oxidative phosphorylation deficiency 23 1
                combined oxidative phosphorylation deficiency 24 1
                combined oxidative phosphorylation deficiency 25 1
                combined oxidative phosphorylation deficiency 26 1
                combined oxidative phosphorylation deficiency 27 1
                combined oxidative phosphorylation deficiency 28 1
                combined oxidative phosphorylation deficiency 29 1
                combined oxidative phosphorylation deficiency 3 1
                combined oxidative phosphorylation deficiency 30 1
                combined oxidative phosphorylation deficiency 31 1
                combined oxidative phosphorylation deficiency 32 1
                combined oxidative phosphorylation deficiency 33 1
                combined oxidative phosphorylation deficiency 34 1
                combined oxidative phosphorylation deficiency 35 1
                combined oxidative phosphorylation deficiency 36 1
                combined oxidative phosphorylation deficiency 37 1
                combined oxidative phosphorylation deficiency 38 1
                combined oxidative phosphorylation deficiency 39 1
                combined oxidative phosphorylation deficiency 4 1
                combined oxidative phosphorylation deficiency 5 2
                combined oxidative phosphorylation deficiency 6 2
                combined oxidative phosphorylation deficiency 7 1
                combined oxidative phosphorylation deficiency 8 2
                combined oxidative phosphorylation deficiency 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.