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ONTOLOGY REPORT - ANNOTATIONS
Term:mitochondrial metabolism disease
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Accession:DOID:700 term browser browse the term
Definition:Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Synonyms:exact_synonym: Deficiencies, Respiratory Chain;   Mitochondrial Disease;   Mitochondrial Disorder;   Mitochondrial Disorders;   Mitochondrial Electron Transport Chain Deficiencies;   Mitochondrial Respiratory Chain Deficiencies;   Oxidative Phosphorylation Deficiencies;   Oxidative Phosphorylation Deficiency;   Respiratory Chain Deficiency
 narrow_synonym: EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC
 related_synonym: Mitochondrial Diseases
 primary_id: MESH:D028361;   RDO:0001846
 xref: GARD:7048
For additional species annotation, visit the Alliance of Genome Resources.

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mitochondrial metabolism disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1d ATP synthase F1 subunit delta JBrowse link 7 12,426,807 12,432,120 RGD:8554872
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:1601052
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:11554173
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:8554872
G Gfm2 G elongation factor, mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 6 27,555,408 27,589,539 RGD:1600779
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:2316864
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:11554173
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd4l mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 9,870 10,166 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 JBrowse link 7 123,583,062 123,586,919 RGD:8554872
G Nol3 nucleolar protein 3 JBrowse link 19 37,232,567 37,236,668 RGD:11554173
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
G Nubpl nucleotide binding protein-like JBrowse link 6 72,891,758 73,147,837 RGD:11554173
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
G Oxa1l OXA1L, mitochondrial inner membrane protein JBrowse link 15 33,004,957 33,012,584 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:11554173
G Rmnd1 required for meiotic nuclear division 1 homolog JBrowse link 1 40,948,843 40,982,669 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Sco1 SCO cytochrome c oxidase assembly protein 1 JBrowse link 10 53,595,854 53,608,437 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1581261
RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tmem126b transmembrane protein 126B JBrowse link 1 156,262,220 156,274,207 RGD:8554872
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit JBrowse link 11 47,047,342 47,052,420 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 JBrowse link 17 35,677,984 35,682,262 RGD:13592920
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:7240710
RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:8554872
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872
Ataxia and Polyneuropathy, Adult-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
Ataxia Neuropathy Spectrum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
Bjornstad syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:1600715
RGD:7240710
RGD:8554872
RGD:11554173
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:7240710
RGD:8554872
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:1600544
RGD:8554872
coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abi1 abl-interactor 1 JBrowse link 17 89,951,662 90,033,334 RGD:8554872
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Ciapin1 cytokine induced apoptosis inhibitor 1 JBrowse link 19 10,596,923 10,612,414 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:13592920
RGD:8554872
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:8554872
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:13592920
RGD:8554872
combined oxidative phosphorylation deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:8554872
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Avil advillin JBrowse link 7 70,292,565 70,310,588 RGD:8554872
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:8554872
G Gfm1 G elongation factor, mitochondrial 1 JBrowse link 2 164,601,575 164,646,478 RGD:8554872
G Mphosph9 M-phase phosphoprotein 9 JBrowse link 12 37,700,282 37,766,487 RGD:8554872
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:13592920
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:8554872
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:8554872
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm1 G elongation factor, mitochondrial 1 JBrowse link 2 164,601,575 164,646,478 RGD:7240710
RGD:8554872
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:8554872
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:8554872
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:7240710
RGD:8554872
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 40,948,843 40,982,669 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 14 113,530,470 113,561,645 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:7240710
RGD:8554872
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:8554872
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elac2 elaC ribonuclease Z 2 JBrowse link 10 51,478,378 51,501,167 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sfxn4 sideroflexin 4 JBrowse link 1 282,213,610 282,236,851 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tars2 threonyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,861,071 197,881,347 RGD:7240710
RGD:8554872
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 74,156,553 74,164,490 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtpbp3 GTP binding protein 3 JBrowse link 16 19,897,135 19,902,226 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt5 tRNA methyltransferase 5 JBrowse link 6 96,164,579 96,171,680 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial JBrowse link 16 83,288,613 83,325,706 RGD:7240710
RGD:8554872
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 4 126,522,335 126,615,402 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Txn2 thioredoxin 2 JBrowse link 7 119,144,350 119,158,173 RGD:8554872
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 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872
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 11 47,047,342 47,052,420 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mipep mitochondrial intermediate peptidase JBrowse link 15 41,084,180 41,192,621 RGD:8554872
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 10 14,257,001 14,258,132 RGD:8554872
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 10 57,613,876 57,618,527 RGD:8554872
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 10 104,155,805 104,158,840 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
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 3 7,051,695 7,056,726 RGD:8554872
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 9 10,446,567 10,449,566 RGD:8554872
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 13 77,940,454 77,946,201 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm2 G elongation factor, mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
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 1 197,903,582 197,907,189 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:7240710
RGD:8554872
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 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl3 mitochondrial ribosomal protein L3 JBrowse link 8 113,603,533 113,626,893 RGD:7240710
RGD:8554872
Cowden-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
cytochrome-c oxidase deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa3 cytochrome C oxidase assembly factor 3 JBrowse link 10 89,198,750 89,199,731 RGD:8554872
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
G Coa7 cytochrome c oxidase assembly factor 7 JBrowse link 5 127,925,726 127,936,516 RGD:8554872
G Coa8 cytochrome c oxidase assembly factor 8 JBrowse link 6
6		 136,185,772
136,279,476		 136,210,936
136,304,317		 RGD:7240710
RGD:8554872
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:7240710
RGD:8554872
G Cox14 cytochrome c oxidase assembly factor COX14 JBrowse link 7 141,378,537 141,380,960 RGD:7240710
RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
G Cox20 cytochrome c oxidase assembly factor COX20 JBrowse link 13 96,219,853 96,224,023 RGD:7240710
RGD:8554872
G Cox6a2 cytochrome c oxidase subunit 6A2 JBrowse link 1 199,624,037 199,626,255 RGD:7240710
RGD:8554872
G Cox6b1 cytochrome c oxidase subunit 6B1 JBrowse link 1 89,075,987 89,084,834 RGD:7240710
RGD:8554872
G Cox8a cytochrome c oxidase subunit 8A JBrowse link 1 222,466,575 222,468,896 RGD:8554872
RGD:7240710
G Cpo carboxypeptidase O JBrowse link 9 70,603,023 70,641,290 RGD:8554872
G Cutc cutC copper transporter JBrowse link 1 263,511,537 263,526,308 RGD:8554872
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 JBrowse link 1 263,448,633 263,490,308 RGD:8554872
G Fastkd2 FAST kinase domains 2 JBrowse link 9 70,448,386 70,471,420 RGD:7240710
RGD:8554872
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:1600676
G Mdh1b malate dehydrogenase 1B JBrowse link 9 70,403,612 70,450,204 RGD:8554872
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Pet100 PET100 cytochrome c oxidase chaperone JBrowse link 12 2,170,630 2,173,259 RGD:7240710
RGD:8554872
G Sco1 SCO cytochrome c oxidase assembly protein 1 JBrowse link 10 53,595,854 53,608,437 RGD:8554872
RGD:7240710
G Taco1 translational activator of cytochrome c oxidase I JBrowse link 10 94,260,148 94,268,276 RGD:7240710
RGD:8554872
RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
Deoxyguanosine Kinase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:11554173
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:11554173
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a12 solute carrier family 25 member 12 JBrowse link 3 57,881,951 57,998,214 RGD:7240710
RGD:8554872
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
RGD:7240710
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
ethylmalonic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ethe1 ETHE1, persulfide dioxygenase JBrowse link 1 81,457,008 81,472,061 RGD:7240710
RGD:8554872
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:11554173
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:11554173
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:11554173
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:8554872
RGD:7240710
French Canadian Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:7240710
RGD:8554872
RGD:11554173
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:11554173
Friedreich ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:1598961
RGD:11554173
RGD:8554872
RGD:1582636
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490251
Friedreich ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:7240710
RGD:8554872
GRACILE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:7240710
RGD:8554872
RGD:12910473
RGD:11554173
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:8554872
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920
Late-Onset Carnitine Palmitoyltransferase II Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:7240710
RGD:8554872
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5685659
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:5688732
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490293
RGD:11554173
RGD:8554872
RGD:5508187
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:11554173
RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5508685
RGD:8554872
RGD:11554173
RGD:8657118
RGD:8657116
RGD:5508712
RGD:5508689
RGD:5508187
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:5508187
RGD:11554173
RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5508703
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:1581057
RGD:8554872
RGD:11554173
RGD:5508187
RGD:5507829
RGD:5491183
RGD:1581059
RGD:1581058
G Mt-nd4l mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 9,870 10,166 RGD:5686339
RGD:11554173
RGD:5686341
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:1581060
RGD:11554173
RGD:8554872
RGD:5507826
RGD:5491202
RGD:5491183
RGD:5491172
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8657119
RGD:11554173
RGD:8554872
RGD:8657127
RGD:8657125
RGD:8657123
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:12902617
RGD:12902618
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:1599415
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:1599580
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158101
RGD:8158104
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:5688732
Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:7240710
RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:1598467
RGD:8554872
RGD:7240710
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:8554872
RGD:11554173
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:1600674
RGD:8554872
RGD:1600676
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5507824
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491185
RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:6482231
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 5 24,297,169 24,320,804 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:6482269
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:11554173
RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:6484662
RGD:8554872
RGD:12914767
RGD:12914766
RGD:11554173
RGD:6484698
RGD:6484669
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:13592920
G Sco1 SCO cytochrome c oxidase assembly protein 1 JBrowse link 10 53,595,854 53,608,437 RGD:8554872
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:724604
RGD:8554872
RGD:7240710
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:1599193
RGD:8554872
RGD:7240710
RGD:11554173
G Taco1 translational activator of cytochrome c oxidase I JBrowse link 10 94,260,148 94,268,276 RGD:11554173
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:8554872
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 11 64,790,801 64,815,484 RGD:8554872
Leigh Syndrome Due To Mitochondrial Complex I Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 JBrowse link 7 35,125,516 35,163,182 RGD:8554872
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 18 29,585,671 29,587,760 RGD:8554872
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 4 159,371,263 159,399,636 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 5 24,297,169 24,320,804 RGD:8554872
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:8554872
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Tmco6 transmembrane and coiled-coil domains 6 JBrowse link 18 29,579,145 29,585,740 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex II Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex III Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex IV Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
Leigh Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:7240710
RGD:8554872
G Osbpl7 oxysterol binding protein-like 7 JBrowse link 10 84,986,330 85,003,947 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:7240710
RGD:8554872
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipt1 lipoyltransferase 1 JBrowse link 9 44,466,627 44,471,986 RGD:8554872
G Mitd1 microtubule interacting and trafficking domain containing 1 JBrowse link 9 44,472,364 44,483,723 RGD:8554872
Marsden Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490262
RGD:11554173
RGD:5490291
RGD:5490270
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5148009
MELAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:11554173
RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:11554173
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:5491184
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490235
RGD:8554872
RGD:11554173
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491173
RGD:8554872
RGD:11554173
RGD:5507825
RGD:5491184
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
Mitochondrial Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatb glutamyl-tRNA amidotransferase subunit B JBrowse link 2 184,600,695 184,679,980 RGD:8554872
G Gatc glutamyl-tRNA amidotransferase subunit C JBrowse link 12 47,031,545 47,039,556 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 JBrowse link 20 48,855,839 48,881,112 RGD:8554872
mitochondrial complex I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:8554872
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 JBrowse link 13 89,622,996 89,632,485 RGD:8554872
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:13592920
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:8554872
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 6 72,461,977 72,502,717 RGD:8554872
G Arhgap5 Rho GTPase activating protein 5 JBrowse link 6 73,345,129 73,408,304 RGD:8554872
G Dtd2 D-aminoacyl-tRNA deacylase 2 JBrowse link 6 72,781,229 72,786,835 RGD:8554872
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:8554872
G Gpr33 G protein-coupled receptor 33 JBrowse link 6 72,804,843 72,805,848 RGD:8554872
G Heatr5a HEAT repeat containing 5A JBrowse link 6 72,648,654 72,750,202 RGD:8554872
G Hectd1 HECT domain E3 ubiquitin protein ligase 1 JBrowse link 6 72,509,658 72,596,285 RGD:8554872
G Mrpl36 mitochondrial ribosomal protein L36 JBrowse link 1 31,261,370 31,264,715 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
RGD:13592920
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 9 10,334,104 10,338,163 RGD:8554872
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 JBrowse link 16 21,275,311 21,282,246 RGD:8554872
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 18 29,585,671 29,587,760 RGD:8554872
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 JBrowse link 7 123,583,062 123,586,919 RGD:8554872
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 4 159,371,263 159,399,636 RGD:8554872
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 JBrowse link 3 111,458,227 111,469,239 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 8 117,351,628 117,353,460 RGD:8554872
G Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 JBrowse link 5 39,251,370 39,256,542 RGD:8554872
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:8554872
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 9 65,478,496 65,488,708 RGD:8554872
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 JBrowse link 1 264,298,671 264,303,712 RGD:8554872
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 7 98,813,062 98,819,408 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:1556706
RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:8554872
RGD:11554173
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 JBrowse link 2 26,471,173 26,471,587 RGD:8554872
RGD:13592920
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:8554872
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:8554872
G Nubpl nucleotide binding protein-like JBrowse link 6 72,891,758 73,147,837 RGD:8554872
G Rmnd1 required for meiotic nuclear division 1 homolog JBrowse link 1 40,948,843 40,982,669 RGD:8554872
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:8554872
G Slc25a10 solute carrier family 25 member 10 JBrowse link 10 109,665,682 109,674,782 RGD:8554872
G Strn3 striatin 3 JBrowse link 6 72,376,360 72,462,676 RGD:8554872
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:8554872
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 11 64,790,801 64,815,484 RGD:8554872
G Tmco6 transmembrane and coiled-coil domains 6 JBrowse link 18 29,579,145 29,585,740 RGD:8554872
G Tmem126b transmembrane protein 126B JBrowse link 1 156,262,220 156,274,207 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 9 10,334,104 10,338,163 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 8 117,351,628 117,353,460 RGD:8554872
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 9 65,478,496 65,488,708 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:8554872
RGD:7240710
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:8554872
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 JBrowse link 3 111,458,227 111,469,239 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 18 29,585,671 29,587,760 RGD:8554872
RGD:7240710
G Tmco6 transmembrane and coiled-coil domains 6 JBrowse link 18 29,579,145 29,585,740 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 9 10,334,104 10,338,163 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 JBrowse link 5 39,251,370 39,256,542 RGD:7240710
RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 5 24,297,169 24,320,804 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 8 117,351,628 117,353,460 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtd2 D-aminoacyl-tRNA deacylase 2 JBrowse link 6 72,781,229 72,786,835 RGD:8554872
G Gpr33 G protein-coupled receptor 33 JBrowse link 6 72,804,843 72,805,848 RGD:8554872
G Heatr5a HEAT repeat containing 5A JBrowse link 6 72,648,654 72,750,202 RGD:8554872
G Nubpl nucleotide binding protein-like JBrowse link 6 72,891,758 73,147,837 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 JBrowse link 7 35,125,516 35,163,182 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 7 98,813,062 98,819,408 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 9 65,478,496 65,488,708 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 4 159,371,263 159,399,636 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 JBrowse link 16 21,275,311 21,282,246 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem126b transmembrane protein 126B JBrowse link 1 156,262,220 156,274,207 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 11 64,790,801 64,815,484 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 JBrowse link 1 264,298,671 264,303,712 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 JBrowse link 7 123,583,062 123,586,919 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:7240710
RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 JBrowse link 2 26,471,173 26,471,587 RGD:8554872
RGD:7240710
mitochondrial complex II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:7240710
RGD:8554872
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 JBrowse link 1 88,779,476 88,780,425 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Gdf9 growth differentiation factor 9 JBrowse link 10 38,782,519 38,793,238 RGD:8554872
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 10 48,629,121 48,772,890 RGD:8554872
G Ttc19 tetratricopeptide repeat domain 19 JBrowse link 10 48,599,321 48,627,374 RGD:8554872
G Uqcrb ubiquinol-cytochrome c reductase binding protein JBrowse link 7 71,264,501 71,269,869 RGD:8554872
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII JBrowse link 10 38,779,132 38,782,489 RGD:8554872
G Zswim7 zinc finger, SWIM-type containing 7 JBrowse link 10 48,587,117 48,599,208 RGD:8554872
mitochondrial complex III deficiency nuclear type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:11554173
G Lyrm7 LYR motif containing 7 JBrowse link 10 40,183,061 40,201,992 RGD:11554173
G Ttc19 tetratricopeptide repeat domain 19 JBrowse link 10 48,599,321 48,627,374 RGD:11554173
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 JBrowse link 20 5,712,200 5,723,902 RGD:11554173
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 JBrowse link 1 225,076,301 225,077,079 RGD:11554173
G Uqcrb ubiquinol-cytochrome c reductase binding protein JBrowse link 7 71,264,501 71,269,869 RGD:11554173
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 JBrowse link 1 190,555,177 190,585,741 RGD:11554173
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII JBrowse link 10 38,779,132 38,782,489 RGD:11554173
mitochondrial complex III deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc19 tetratricopeptide repeat domain 19 JBrowse link 10 48,599,321 48,627,374 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Uqcrb ubiquinol-cytochrome c reductase binding protein JBrowse link 7 71,264,501 71,269,869 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII JBrowse link 10 38,779,132 38,782,489 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdzd9 PDZ domain containing 9 JBrowse link 1 190,584,878 190,604,719 RGD:8554872
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 JBrowse link 1 190,555,177 190,585,741 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 JBrowse link 20 5,712,200 5,723,902 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyrm7 LYR motif containing 7 JBrowse link 10 40,183,061 40,201,992 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 JBrowse link 1 225,076,301 225,077,079 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 JBrowse link 10 46,768,539 46,783,889 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1d ATP synthase F1 subunit delta JBrowse link 7 12,426,807 12,432,120 RGD:8554872
G Atp5f1e ATP synthase F1 subunit epsilon JBrowse link 3 172,563,105 172,566,007 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 JBrowse link 10 46,768,539 46,783,889 RGD:7240710
RGD:8554872
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1d ATP synthase F1 subunit delta JBrowse link 7 12,426,807 12,432,120 RGD:8554872
RGD:7240710
Mitochondrial Cytopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
mitochondrial DNA depletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Suclg1 succinate-CoA ligase, alpha subunit JBrowse link 4 101,181,315 101,210,692 RGD:8554872
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872
RGD:7240710
Mitochondrial DNA Depletion Syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
Mitochondrial DNA Depletion Syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrm2 mitochondrial rRNA methyltransferase 2 JBrowse link 12 16,398,749 16,403,656 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:7240710
RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
mitochondrial DNA depletion syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694317
RGD:8694284
G Ranbp2 RAN binding protein 2 JBrowse link 20
20		 28,027,054
28,365,538		 28,076,664
28,375,676		 RGD:8554872
mitochondrial DNA depletion syndrome 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:11554173
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:11554173
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Suclg1 succinate-CoA ligase, alpha subunit JBrowse link 4 101,181,315 101,210,692 RGD:7240710
RGD:8554872
mitochondrial encephalomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq7 coenzyme Q7, hydroxylase JBrowse link 1 188,176,060 188,190,874 RGD:10402107
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:11554173
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:8554872
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:11554173
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:11554173
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694177
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:11554173
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:1601000
Mitochondrial Encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5507824
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
mitochondrial myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:13592920
G Dna2 DNA replication helicase/nuclease 2 RGD:10401079
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8694159
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580619
RGD:8554872
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Vdac1 voltage-dependent anion channel 1 JBrowse link 10 37,724,915 37,752,827 RGD:11554173
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla8 patatin-like phospholipase domain containing 8 JBrowse link 6 64,224,870 64,288,465 RGD:8554872
RGD:7240710
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msto1 misato mitochondrial distribution and morphology regulator 1 JBrowse link 2 188,212,211 188,216,482 RGD:8554872
RGD:7240710
Mitochondrial Phosphate Carrier Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a3 solute carrier family 25 member 3 JBrowse link 7 31,816,601 31,824,064 RGD:7240710
RGD:8554872
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpc1 mitochondrial pyruvate carrier 1 JBrowse link 1 53,026,608 53,038,229 RGD:7240710
RGD:8554872
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:7240710
RGD:8554872
multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Etfa electron transfer flavoprotein subunit alpha JBrowse link 8 60,028,786 60,086,352 RGD:7240710
RGD:8554872
G Etfb electron transfer flavoprotein subunit beta JBrowse link 1 98,472,776 98,486,940 RGD:7240710
RGD:8554872
G Etfdh electron transfer flavoprotein dehydrogenase JBrowse link 2 178,367,547 178,389,641 RGD:7240710
RGD:8554872
G Flad1 flavin adenine dinucleotide synthetase 1 JBrowse link 2 188,726,994 188,736,462 RGD:8554872
multiple mitochondrial dysfunctions syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bola3 bolA family member 3 JBrowse link 4 115,046,693 115,056,140 RGD:8554872
G Iba57 iron-sulfur cluster assembly factor IBA57 JBrowse link 10 45,506,124 45,514,909 RGD:11554173
G Isca1 iron-sulfur cluster assembly 1 JBrowse link 17 5,281,727 5,294,386 RGD:8554872
G Isca2 iron-sulfur cluster assembly 2 JBrowse link 6 108,488,678 108,490,188 RGD:11554173
G Nfu1 NFU1 iron-sulfur cluster scaffold JBrowse link 4 118,814,284 118,834,955 RGD:8554872
RGD:11554173
multiple mitochondrial dysfunctions syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfu1 NFU1 iron-sulfur cluster scaffold JBrowse link 4 118,814,284 118,834,955 RGD:8554872
RGD:7240710
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bola3 bolA family member 3 JBrowse link 4 115,046,693 115,056,140 RGD:7240710
RGD:8554872
multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iba57 iron-sulfur cluster assembly factor IBA57 JBrowse link 10 45,506,124 45,514,909 RGD:7240710
RGD:8554872
multiple mitochondrial dysfunctions syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isca2 iron-sulfur cluster assembly 2 JBrowse link 6 108,488,678 108,490,188 RGD:7240710
RGD:8554872
multiple mitochondrial dysfunctions syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isca1 iron-sulfur cluster assembly 1 JBrowse link 17 5,281,727 5,294,386 RGD:8554872
RGD:7240710
multiple mitochondrial dysfunctions syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpcb peptidase, mitochondrial processing beta subunit JBrowse link 4 9,908,838 9,921,615 RGD:8554872
RGD:7240710
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 JBrowse link 20 13,665,046 13,666,845 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:8554872
RGD:11554173
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
RGD:11554173
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:7240710
RGD:8554872
NARP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:13825442
RGD:8554872
RGD:11554173
optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7800716
RGD:7800715
RGD:7800709
RGD:7800708
RGD:7800706
RGD:7800704
RGD:7800699
RGD:7800686
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7800683
Parkinson's Disease, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adh1 alcohol dehydrogenase 1 (class I) JBrowse link 2 243,550,655 243,562,243 RGD:8554872
G Fmc1 formation of mitochondrial complex V assembly factor 1 JBrowse link 4 66,276,835 66,284,868 RGD:11554173
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:8554872
Pearson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd4l mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 9,870 10,166 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) JBrowse link 15 34,216,735 34,224,357 RGD:8554872
RGD:7240710
primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:7240710
RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:11554173
RGD:8554872
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42bpa CDC42 binding protein kinase alpha JBrowse link 13 98,231,326 98,447,762 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq6 coenzyme Q6 monooxygenase JBrowse link 6 108,076,393 108,087,782 RGD:7240710
RGD:8554872
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 JBrowse link 6 108,087,677 108,123,811 RGD:8554872
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cercam cerebral endothelial cell adhesion molecule JBrowse link 3 8,421,116 8,444,743 RGD:8554872
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Coq4 coenzyme Q4 JBrowse link 3 8,349,386 8,357,719 RGD:7240710
RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:8554872
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
G Golga2 golgin A2 JBrowse link 3 11,317,328 11,337,569 RGD:8554872
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:8554872
G Mir2964 microRNA 2964 JBrowse link 3 8,407,427 8,407,526 RGD:8554872
G Odf2 outer dense fiber of sperm tails 2 JBrowse link 3 8,449,733 8,495,764 RGD:8554872
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog JBrowse link 3 11,408,076 11,410,907 RGD:8554872
G Slc27a4 solute carrier family 27 member 4 JBrowse link 3 8,363,937 8,376,858 RGD:8554872
G Swi5 SWI5 homologous recombination repair protein JBrowse link 3 11,307,981 11,317,049 RGD:8554872
G Trub2 TruB pseudouridine synthase family member 2 JBrowse link 3 8,338,479 8,348,746 RGD:8554872
G Urm1 ubiquitin related modifier 1 JBrowse link 3 8,389,024 8,405,868 RGD:8554872
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq7 coenzyme Q7, hydroxylase JBrowse link 1 188,176,060 188,190,874 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710
pyruvate carboxylase deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pc pyruvate carboxylase JBrowse link 1 219,759,157 219,859,854 RGD:737741
RGD:8554872
RGD:7240710
pyruvate decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apip APAF1 interacting protein JBrowse link 3 92,969,128 92,998,104 RGD:8554872
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:8554872
RGD:13592920
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:731230
RGD:8554872
RGD:13207454
RGD:13207453
RGD:11554173
RGD:7240710
G Pdhb pyruvate dehydrogenase E1 beta subunit JBrowse link 15 18,540,826 18,546,855 RGD:1599115
RGD:8554872
RGD:11554173
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:13592920
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 5 25,577,593 25,584,325 RGD:13592920
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:8554872
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhb pyruvate dehydrogenase E1 beta subunit JBrowse link 15 18,540,826 18,546,855 RGD:7240710
RGD:8554872
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:7240710
RGD:8554872
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:7240710
Sarcosinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sardh sarcosine dehydrogenase JBrowse link 3 5,737,203 5,802,153 RGD:7240710
RGD:8554872
Sengers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
RGD:11554173
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:11554173
Spinocerebellar Ataxia with Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
very long chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadl acyl-CoA dehydrogenase, long chain JBrowse link 9 73,833,368 73,871,857 RGD:8554872
RGD:13592920
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:7240710
RGD:8554872
RGD:11554173
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        mitochondrial metabolism disease 306
          3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
          Ataxia Neuropathy Spectrum 1
          Ataxia and Polyneuropathy, Adult-Onset 1
          Bjornstad syndrome 1
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
          Childhood Myocerebrohepatopathy Spectrum 0
          Cowden-Like Syndrome 3
          Deoxyguanosine Kinase Deficiency 4
          ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 1
          Friedreich ataxia + 2
          GRACILE syndrome 1
          Hypermetabolism due to Defect in Mitochondria 0
          Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
          Leber hereditary optic neuropathy + 23
          Leigh disease + 48
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
          Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 1
          Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
          Mitochondrial Cardiomyopathy 4
          Mitochondrial Cytopathy + 75
          Mitochondrial Phosphate Carrier Deficiency 1
          Myopathy with Giant Abnormal Mitochondria 0
          Myopathy, Cataract, Hypogonadism Syndrome 0
          Noninsulin-Dependent Diabetes Mellitus with Deafness 0
          Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
          Parkinson's Disease, Mitochondrial 3
          Pearson syndrome 8
          Progressive External Ophthalmoplegia with Hypogonadism 0
          Proximal Myopathy with Focal Depletion of Mitochondria 0
          Sarcosinemia 1
          Spinocerebellar Ataxia with Epilepsy 1
          Succinate-Coa Ligase Deficiency + 1
          VDAC Deficiency 0
          Wolfram syndrome 2 2
          carbamoyl phosphate synthetase I deficiency disease 1
          coenzyme Q10 deficiency disease + 26
          combined oxidative phosphorylation deficiency + 44
          cytochrome-c oxidase deficiency disease + 27
          deafness-dystonia-optic neuronopathy syndrome 1
          early infantile epileptic encephalopathy 39 1
          ethylmalonic encephalopathy 1
          hypomyelinating leukodystrophy 4 2
          hypotonia-cystinuria syndrome 4
          mitochondrial DNA depletion syndrome + 25
          mitochondrial complex I deficiency + 56
          mitochondrial complex II deficiency 3
          mitochondrial complex III deficiency + 13
          mitochondrial complex V (ATP synthase) deficiency + 5
          mitochondrial pyruvate carrier deficiency 1
          multiple acyl-CoA dehydrogenase deficiency + 4
          multiple mitochondrial dysfunctions syndrome + 6
          optic atrophy 1 3
          pyruvate carboxylase deficiency disease + 1
          pyruvate decarboxylase deficiency + 12
          sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 3
          very long chain acyl-CoA dehydrogenase deficiency 3
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1862
            mitochondrial metabolism disease 306
              3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
              Ataxia Neuropathy Spectrum 1
              Ataxia and Polyneuropathy, Adult-Onset 1
              Bjornstad syndrome 1
              Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
              Childhood Myocerebrohepatopathy Spectrum 0
              Cowden-Like Syndrome 3
              Deoxyguanosine Kinase Deficiency 4
              ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 1
              Friedreich ataxia + 2
              GRACILE syndrome 1
              Hypermetabolism due to Defect in Mitochondria 0
              Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
              Leber hereditary optic neuropathy + 23
              Leigh disease + 48
              Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
              Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 1
              Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
              Mitochondrial Cardiomyopathy 4
              Mitochondrial Cytopathy + 75
              Mitochondrial Phosphate Carrier Deficiency 1
              Myopathy with Giant Abnormal Mitochondria 0
              Myopathy, Cataract, Hypogonadism Syndrome 0
              Noninsulin-Dependent Diabetes Mellitus with Deafness 0
              Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
              Parkinson's Disease, Mitochondrial 3
              Pearson syndrome 8
              Progressive External Ophthalmoplegia with Hypogonadism 0
              Proximal Myopathy with Focal Depletion of Mitochondria 0
              Sarcosinemia 1
              Spinocerebellar Ataxia with Epilepsy 1
              Succinate-Coa Ligase Deficiency + 1
              VDAC Deficiency 0
              Wolfram syndrome 2 2
              carbamoyl phosphate synthetase I deficiency disease 1
              coenzyme Q10 deficiency disease + 26
              combined oxidative phosphorylation deficiency + 44
              cytochrome-c oxidase deficiency disease + 27
              deafness-dystonia-optic neuronopathy syndrome 1
              early infantile epileptic encephalopathy 39 1
              ethylmalonic encephalopathy 1
              hypomyelinating leukodystrophy 4 2
              hypotonia-cystinuria syndrome 4
              mitochondrial DNA depletion syndrome + 25
              mitochondrial complex I deficiency + 56
              mitochondrial complex II deficiency 3
              mitochondrial complex III deficiency + 13
              mitochondrial complex V (ATP synthase) deficiency + 5
              mitochondrial pyruvate carrier deficiency 1
              multiple acyl-CoA dehydrogenase deficiency + 4
              multiple mitochondrial dysfunctions syndrome + 6
              optic atrophy 1 3
              pyruvate carboxylase deficiency disease + 1
              pyruvate decarboxylase deficiency + 12
              sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 3
              very long chain acyl-CoA dehydrogenase deficiency 3
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.