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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 6 45,176,773 45,191,505 RGD:9068941
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 129,550,287 129,586,271 RGD:9068941
G AVIL advillin JBrowse link 12 31,369,872 31,389,847 RGD:9068941
G C12H12orf65 chromosome 12 C12orf65 homolog JBrowse link 12 125,064,881 125,089,621 RGD:9068941
G COPB2 COPI coat complex subunit beta 2 JBrowse link 3 143,994,312 144,026,277 RGD:9068941
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 16 23,774,565 23,809,868 RGD:9068941
G GFM1 G elongation factor mitochondrial 1 JBrowse link 3 163,721,473 163,769,454 RGD:9068941
G MPHOSPH9 M-phase phosphoprotein 9 JBrowse link 12 124,991,210 125,065,203 RGD:9068941
G MRPS16 mitochondrial ribosomal protein S16 JBrowse link 10 72,255,326 72,259,172 RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 143,638,771 143,993,852 RGD:9068941
G MTO1 mitochondrial tRNA translation optimization 1 JBrowse link 6 74,570,849 74,612,567 RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 129,591,231 129,605,214 RGD:9068941
G TSFM Ts translation elongation factor, mitochondrial JBrowse link 12 31,384,341 31,404,576 RGD:9068941
G TUFM Tu translation elongation factor, mitochondrial JBrowse link 16 29,229,905 29,233,508 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 3 163,721,473 163,769,454 RGD:7240710
RGD:9068941
G MRPL44 mitochondrial ribosomal protein L44 JBrowse link 2B 229,779,983 229,790,240 RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 143,638,771 143,993,852 RGD:9068941
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 11 77,117,668 77,255,037 RGD:9068941
G VARS2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 6 31,527,503 31,539,814 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 6 74,570,849 74,612,567 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 6 153,919,641 153,965,134 RGD:7240710
RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 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 16 23,774,565 23,809,868 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 2A 56,931,110 56,986,408 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 6 5,279,111 5,790,110 RGD:7240710
RGD:9068941
G LYRM4 LYR motif containing 4 JBrowse link 6 5,126,916 5,279,037 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 15 62,225,620 62,253,612 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 2B 229,779,983 229,790,240 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 17 43,331,453 43,357,469 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 10 119,135,702 119,160,711 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 6 5,126,916 5,279,037 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 10 72,255,326 72,259,172 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 6 31,527,503 31,539,814 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 1 129,480,818 129,501,639 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 18 42,904,136 42,918,626 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 19 17,797,130 17,804,481 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 11 77,117,668 77,255,037 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 2B 202,847,382 202,850,459 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 14 59,836,893 59,847,145 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 13 110,892,823 110,957,000 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 3 67,483,657 67,642,988 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TXN2 thioredoxin 2 JBrowse link 22 35,220,721 35,235,891 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TSFM Ts translation elongation factor, mitochondrial JBrowse link 12 31,384,341 31,404,576 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 3 105,350,939 105,355,548 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIPEP mitochondrial intermediate peptidase JBrowse link 13 23,334,266 23,500,582 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRPS34 mitochondrial ribosomal protein S34 JBrowse link 16 1,824,282 1,825,560 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QBP complement C1q binding protein JBrowse link 17 5,473,239 5,479,735 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRPS7 mitochondrial ribosomal protein S7 JBrowse link 17 74,762,057 74,766,891 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRIT1 tRNA isopentenyltransferase 1 JBrowse link 1 40,456,427 40,499,187 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRPS2 mitochondrial ribosomal protein S2 JBrowse link 9 135,633,900 135,637,926 RGD:9068941
RGD:7240710
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 19 5,631,304 5,633,783 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRPS14 mitochondrial ribosomal protein S14 JBrowse link 1 154,224,170 154,233,193 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 5 41,153,714 41,199,765 RGD:9068941
RGD:7240710
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TUFM Tu translation elongation factor, mitochondrial JBrowse link 16 29,229,905 29,233,508 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 3 143,994,312 144,026,277 RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 143,638,771 143,993,852 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 129,550,287 129,586,271 RGD:7240710
RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 129,591,231 129,605,214 RGD:9068941
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12H12orf65 chromosome 12 C12orf65 homolog JBrowse link 12 125,064,881 125,089,621 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 6 45,176,773 45,191,505 RGD:7240710
RGD:9068941
G SDHD succinate dehydrogenase complex subunit D JBrowse link 11 110,817,016 110,825,977 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 3 135,866,397 135,907,043 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11950
    Nutritional and Metabolic Diseases 3262
      disease of metabolism 3262
        mitochondrial metabolism disease 296
          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 11950
    Developmental Diseases 8331
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7166
        genetic disease 6689
          inherited metabolic disorder 1663
            mitochondrial metabolism disease 296
              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.