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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 12 12,706,043 12,718,821 RGD:9068941
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 101,275,027 101,307,551 RGD:9068941
G AVIL advillin JBrowse link 10 1,855,598 1,875,156 RGD:9068941
G C26H12orf65 chromosome 26 C12orf65 homolog JBrowse link 26 6,296,859 6,310,684 RGD:9068941
G COPB2 COPI coat complex subunit beta 2 JBrowse link 23 35,536,520 35,604,708 RGD:9068941
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 6 22,276,189 22,299,865 RGD:9068941
G EEF1AKMT3 EEF1A lysine methyltransferase 3 JBrowse link 10 1,833,759 1,842,646 RGD:9068941
G GFM1 G elongation factor mitochondrial 1 JBrowse link 23 51,940,307 51,983,196 RGD:9068941
G MPHOSPH9 M-phase phosphoprotein 9 JBrowse link 26 6,308,313 6,379,937 RGD:9068941
G MRPS16 mitochondrial ribosomal protein S16 JBrowse link 4 23,827,690 23,829,319 RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 23 35,508,478 35,536,081 RGD:9068941
G MTO1 mitochondrial tRNA translation optimization 1 JBrowse link 12 35,533,766 35,563,058 RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 RGD:9068941
G TUFM Tu translation elongation factor, mitochondrial JBrowse link 6 18,357,223 18,360,929 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 23 51,940,307 51,983,196 RGD:7240710
RGD:9068941
G MRPL44 mitochondrial ribosomal protein L44 JBrowse link 37 29,681,751 29,689,489 RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 23 35,508,478 35,536,081 RGD:9068941
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 21 20,277,707 20,413,624 RGD:9068941
G VARS2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 12 681,638 694,154 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 12 35,533,766 35,563,058 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 1 41,755,099 41,799,589 RGD:7240710
RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 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 6 22,276,189 22,299,865 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 10 56,478,771 56,520,992 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 35 5,389,694 5,887,911 RGD:7240710
RGD:9068941
G LYRM4 LYR motif containing 4 JBrowse link 35 5,229,851 5,373,965 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 30 29,388,600 29,415,578 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 37 29,681,751 29,689,489 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 5 36,957,901 36,978,646 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 28 29,371,427 29,393,649 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 35 5,229,851 5,373,965 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 4 23,827,690 23,829,319 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 12 681,638 694,154 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 17 59,681,889 59,695,747 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 7 45,118,188 45,127,048 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 20 45,422,653 45,427,434 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 21 20,277,707 20,413,624 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 37 7,149,375 7,155,318 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 8 35,952,183 35,960,681 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 22 58,891,826 58,946,112 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 20 25,032,708 25,167,574 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 10 27,947,647 27,960,634 RGD:7240710
RGD:9068941
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EEF1AKMT3 EEF1A lysine methyltransferase 3 JBrowse link 10 1,833,759 1,842,646 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 33 7,944,675 7,949,402 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 25 14,755,474 14,930,412 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 6 39,130,597 39,131,643 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 5 31,354,665 31,359,672 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 9 5,231,612 5,235,383 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 15 3,013,928 3,071,029 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 9 51,211,701 51,214,465 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 20 54,341,571 54,343,606 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 7 24,342,371 24,368,519 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 2 57,248,610 57,304,148 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 6 18,357,223 18,360,929 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 23 35,536,520 35,604,708 RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 23 35,508,478 35,536,081 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 X 101,275,027 101,307,551 RGD:7240710
RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 RGD:9068941
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C26H12orf65 chromosome 26 C12orf65 homolog JBrowse link 26 6,296,859 6,310,684 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 12 12,706,043 12,718,821 RGD:7240710
RGD:9068941
G SDHD succinate dehydrogenase complex subunit D JBrowse link 5 21,030,295 21,041,125 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 23 28,566,318 28,605,483 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12114
    Nutritional and Metabolic Diseases 3381
      disease of metabolism 3381
        mitochondrial metabolism disease 312
          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 12114
    Developmental Diseases 8406
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7231
        genetic disease 6744
          inherited metabolic disorder 1706
            mitochondrial metabolism disease 312
              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.