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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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.

show annotations for term's descendants           Sort by:
 
mitochondrial metabolism disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:29478781 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:25741868 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419 		JBrowse link
G Dguok deoxyguanosine kinase susceptibility ISO mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA RGD PMID:11687800 RGD:1601052 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818383 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:28812649 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:29075935 NCBI chr 2:27,949,195...27,984,045
Ensembl chr 2:27,949,208...27,984,256 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO Mitochondrial trifunctional protein deficiency, OMIM:609015 RGD PMID:8651282 RGD:1600779 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995 		JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO DNA:missense mutations, frameshift mutations:multiple (human) RGD PMID:11170888 RGD:2316864 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010 		JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:3612192, PMID:8042671, PMID:8095070, PMID:8190310, PMID:8250532, PMID:8395787, PMID:8602753, PMID:8644724, PMID:8750605, PMID:9199572, PMID:9329425, PMID:9556461, PMID:9568930, PMID:9762610, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11371515, PMID:11730668, PMID:11751691, PMID:11843698, PMID:11916326, PMID:11925565, PMID:14998933, PMID:16049925, PMID:16217706, PMID:17352390, PMID:17452590, PMID:18055910, PMID:18461509, PMID:19667215, PMID:20301382, PMID:22933740, PMID:24088041, PMID:24118886, PMID:25741868, PMID:26633545, PMID:28027978, PMID:30311386, PMID:32313153 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:25741868 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:20301382, PMID:25741868 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:9299505, PMID:10589546, PMID:12624137, PMID:12736867, PMID:14520659, PMID:14730434, PMID:15576045, PMID:16306525, PMID:17400793, PMID:18332249, PMID:20301382, PMID:25741868, PMID:27164671 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:25741868 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:30245030 NCBI chr 7:123,583,062...123,586,919
Ensembl chr 7:123,583,062...123,586,919 		JBrowse link
G Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:25741868, PMID:31866046 NCBI chr10:109,278,712...109,280,863
Ensembl chr10:109,278,712...109,280,863 		JBrowse link
G Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:25741868 NCBI chr 1:162,369,801...162,376,024
Ensembl chr 1:162,369,801...162,376,023 		JBrowse link
G Nol3 nucleolar protein 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19139834 NCBI chr19:37,232,567...37,236,668
Ensembl chr19:37,235,001...37,236,649 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16157314 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G Nubpl nucleotide binding protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818383 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:4058877, PMID:6493699, PMID:9490303, PMID:9917792, PMID:11017079, PMID:11440988, PMID:11440989, PMID:11810270, PMID:12036970, PMID:12566046, PMID:14644237, PMID:14961560, PMID:15505825, PMID:15531309, PMID:16158427, PMID:16240368, PMID:16513463, PMID:18065439, PMID:18158317, PMID:18222991, PMID:19029523, PMID:20157015, PMID:20659957, PMID:20952381, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23401657, PMID:24907432, PMID:25012220, PMID:25564500, PMID:25641387, PMID:25741868, PMID:26467025, PMID:28812649 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:30201738 NCBI chr15:33,004,957...33,012,584
Ensembl chr15:33,004,133...33,012,575 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Mitochondrial disease
ClinVar Annotator: match by term: Mitochondrial diseases
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:632821, PMID:2067633, PMID:2725645, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12210792, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12975295, PMID:14467368, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15913923, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16957900, PMID:17067213, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17894835, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18716558, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19251978, PMID:19275594, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20843780, PMID:21038416, PMID:21138766, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21276947, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21647632, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21956653, PMID:21993618, PMID:22006280, PMID:22166854, PMID:22189570, PMID:22342071, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23430834, PMID:23448099, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:24033266, PMID:24122062, PMID:24272679, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25713120, PMID:25741868, PMID:26077851, PMID:26104464, PMID:26467025, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27422324, PMID:27822509, PMID:27838477, PMID:27987238, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28812649, PMID:28837072, PMID:28865037, PMID:29272804, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29574624, PMID:29588995, PMID:29712893, PMID:29920680, PMID:30021052, PMID:30311386, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:18835491, PMID:23022098, PMID:23022099, PMID:24033266, PMID:25058219, PMID:25326635, PMID:25604853, PMID:25741868, PMID:26238252, PMID:26395190, PMID:27159321, PMID:27350610, PMID:27412952, PMID:27843092, PMID:32576985 NCBI chr 1:40,948,843...40,982,669
Ensembl chr 1:40,948,847...40,972,826 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:21646632, PMID:25741868, PMID:28812649, PMID:32313153 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17182746 NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:27693233, PMID:10220377 RGD:1581261 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9917329 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:25741868, PMID:27374773, PMID:27374774, PMID:30311386 NCBI chr 1:156,262,220...156,274,207
Ensembl chr 1:156,262,031...156,275,002 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:29290614 NCBI chr10:46,980,646...47,018,728
Ensembl chr10:46,981,958...47,018,537 		JBrowse link
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:27132592 NCBI chr11:47,047,342...47,052,420
Ensembl chr11:47,047,342...47,052,418 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:11431692, PMID:12872260, PMID:16639411, PMID:17272269, PMID:17620490, PMID:18279890, PMID:18971204, PMID:19513767, PMID:20479361, PMID:20659899, PMID:20880070, PMID:25741868, PMID:26467025, PMID:28812649 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892 		JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISS MouseDO NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Mitochondrial diseases ClinVar PMID:28812649 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377 		JBrowse link
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:605911		 OMIM
ClinVar		 PMID:9337379, PMID:9727719, PMID:11228257, PMID:11479731, PMID:12072887, PMID:12647205, PMID:20346956, PMID:23751782, PMID:25511235, PMID:25741868, PMID:28492532 NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739		 OMIM
ClinVar		 PMID:16527507, PMID:22683713, PMID:23707711, PMID:24033266, PMID:24997715, PMID:25016221, PMID:25741868, PMID:28482397, PMID:28492532, PMID:28778788, PMID:28916646, PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261 		JBrowse link
adult-onset ataxia and polyneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onset ClinVar PMID:3612192, PMID:8190310, PMID:8395787, PMID:8602753, PMID:8644724, PMID:8750605, PMID:9568930, PMID:9762610, PMID:11916326, PMID:16049925, PMID:18055910 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy		 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP		 DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:		 ClinVar
CTD
OMIM		 PMID:632821, PMID:1582434, PMID:2067633, PMID:2725645, PMID:8884268, PMID:9500334, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:14745080, PMID:15122711, PMID:15181170, PMID:15258572, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15800909, PMID:15824347, PMID:15913923, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16715201, PMID:16857757, PMID:16919951, PMID:16929381, PMID:16940310, PMID:16943369, PMID:16957900, PMID:17067213, PMID:17088268, PMID:17280874, PMID:17426723, PMID:17436221, PMID:17438011, PMID:17452231, PMID:17502560, PMID:17538929, PMID:17846414, PMID:17894835, PMID:17923349, PMID:17950645, PMID:17980715, PMID:18156159, PMID:18195149, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18716558, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19195941, PMID:19251978, PMID:19275594, PMID:19307547, PMID:19344718, PMID:19364868, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19762913, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19837034, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20176107, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20701905, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20837862, PMID:20843780, PMID:20883824, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21259344, PMID:21276947, PMID:21282586, PMID:21301859, PMID:21305355, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21696159, PMID:21704543, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21953457, PMID:21956653, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22114710, PMID:22166854, PMID:22176657, PMID:22189570, PMID:22237560, PMID:22277967, PMID:22334187, PMID:22342071, PMID:22357363, PMID:22470557, PMID:22494076, PMID:22552686, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22778364, PMID:22863191, PMID:22931735, PMID:22933815, PMID:22987704, PMID:22995991, PMID:23066759, PMID:23077218, PMID:23084792, PMID:23208208, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23446635, PMID:23446645, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23665194, PMID:23719791, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23873972, PMID:23921535, PMID:24033266, PMID:24091540, PMID:24099403, PMID:24122062, PMID:24259288, PMID:24265579, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24642831, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25065347, PMID:25118206, PMID:25203713, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25466440, PMID:25488682, PMID:25585994, PMID:25660390, PMID:25713120, PMID:25741868, PMID:25771874, PMID:25850945, PMID:25914719, PMID:25940035, PMID:26050231, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26169155, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27381400, PMID:27422324, PMID:27450679, PMID:27538604, PMID:27538665, PMID:27822509, PMID:27826120, PMID:27838477, PMID:27854218, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28815208, PMID:28837072, PMID:28865037, PMID:28901595, PMID:28958595, PMID:29029963, PMID:29190809, PMID:29272804, PMID:29278894, PMID:29302508, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29644085, PMID:29712893, PMID:29915382, PMID:29920680, PMID:29950568, PMID:29992832, PMID:30021052, PMID:30167885, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30423451, PMID:30831263, PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400 		JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640		 OMIM
ClinVar		 PMID:632821, PMID:2067633, PMID:2725645, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12565911, PMID:12872260, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16929381, PMID:16940310, PMID:16943369, PMID:17088268, PMID:17420318, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20220442, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22237560, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23783014, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25488682, PMID:25585994, PMID:25741868, PMID:25850945, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28901595, PMID:29029963, PMID:29190809, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:29992832, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283		 OMIM
ClinVar		 PMID:8644740, PMID:10364542, PMID:10926541, PMID:11756613, PMID:12112115, PMID:25741868, PMID:28492532 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		 ClinVar
OMIM		 PMID:1634620, PMID:10522883, PMID:11431692, PMID:12163192, PMID:15668446, PMID:17614277, PMID:19353676, PMID:19513767, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:28812649, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131		 OMIM
ClinVar		 PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533, PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077		 OMIM
ClinVar		 PMID:19664747, PMID:21646632, PMID:26467025, PMID:28492532, PMID:28812649 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817 		JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1		 OMIM
ClinVar		 PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20883824, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25914719, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM		 PMID:26094573 NCBI chr 6:47,916,188...47,925,582
Ensembl chr 6:47,916,188...47,925,571 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM		 PMID:15907288, PMID:21937588, PMID:25326635, PMID:25741868 NCBI chr19:917,203...939,236
Ensembl chr19:917,203...939,221 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by OMIM:617070
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		 ClinVar
OMIM		 PMID:11983456, PMID:16908739, PMID:17073823, PMID:17452231, PMID:18205204, PMID:23043144, PMID:25741868, PMID:26874653 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ClinVar
OMIM		 PMID:25741868, PMID:29290614 NCBI chr10:46,980,646...47,018,728
Ensembl chr10:46,981,958...47,018,537 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Pili torti-deafness syndrome
ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency
ClinVar Annotator: match by term: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
ClinVar Annotator: match by OMIM:262000		 OMIM
ClinVar		 PMID:9545407, PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:19389488, PMID:19508421, PMID:20518024, PMID:21274865, PMID:22277166, PMID:24172246, PMID:25741868, PMID:25895478, PMID:25914718, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197 		JBrowse link
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 ISO CPS I deficiency, OMIM:237300, DNA:splice-site mutation
ClinVar Annotator: match by OMIM:237300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CPS I DEFICIENCY
ClinVar Annotator: match by term: Congenital hyperammonemia, type I		 OMIM
ClinVar
CTD		 PMID:8486760, PMID:9686343, PMID:9711878, PMID:11388595, PMID:11474210, PMID:12655559, PMID:12955727, PMID:15050969, PMID:15164414, PMID:15617192, PMID:15876373, PMID:16737834, PMID:17310273, PMID:18414213, PMID:18666241, PMID:19167850, PMID:19309799, PMID:19793055, PMID:20578160, PMID:20800523, PMID:20855223, PMID:21120950, PMID:22173106, PMID:22575620, PMID:23649895, PMID:24813853, PMID:25741868, PMID:26059772, PMID:26440671, PMID:26592762, PMID:27150549, PMID:27290639, PMID:28007335, PMID:28444906, PMID:28492532, PMID:28526534, PMID:28658158, PMID:31507628, PMID:8486760 RGD:1600715 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
ClinVar Annotator: match by OMIM:608836		 OMIM
ClinVar		 PMID:736528, PMID:835844, PMID:2647738, PMID:2762996, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10862092, PMID:11855939, PMID:12560872, PMID:12673791, PMID:12707442, PMID:15642848, PMID:15776096, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17709715, PMID:17936304, PMID:18363739, PMID:18550408, PMID:20301431, PMID:20810031, PMID:21227726, PMID:21709843, PMID:21913903, PMID:22652984, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:24033266, PMID:24398345, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:27123472, PMID:27629963, PMID:28492532, PMID:28516040, PMID:28779239 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089 		JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342, PMID:25741868, PMID:28492532 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791 		JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060, PMID:29887215 NCBI chr 7:49,729,533...49,732,974
Ensembl chr 7:49,729,533...49,732,764 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)		 CTD PMID:17923349, PMID:11431686, PMID:17420318, PMID:16401742, PMID:12565911, PMID:12975295 RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342, PMID:25741868, PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions		 ClinVar PMID:21646632, PMID:21951382 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:12565915, PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800, PMID:14680979 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions		 ClinVar PMID:16639411, PMID:17272269, PMID:17620490, PMID:18279890, PMID:18971204, PMID:19513767, PMID:20479361, PMID:20659899, PMID:20880070, PMID:25741868, PMID:26467025, PMID:28812649, PMID:11431692 RGD:1600544 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892 		JBrowse link
coenzyme Q10 deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type ClinVar PMID:24033266, PMID:26285866, PMID:26467025, PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126, PMID:16400613, PMID:17332895, PMID:17374725, PMID:17420317, PMID:17855635, PMID:20495179, PMID:23758206, PMID:24988567, PMID:25525159, PMID:25741868, PMID:27493029, PMID:28492532 NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:26467025, PMID:28492532 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419 		JBrowse link
G Coq9 coenzyme Q9 ISS
ISO		 OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary		 MouseDO
ClinVar		 NCBI chr19:10,583,855...10,596,848
Ensembl chr19:10,583,857...10,596,851 		JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr17:90,033,432...90,072,506
Ensembl chr17:90,033,539...90,071,408 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISS
ISO		 OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary		 MouseDO
ClinVar		 NCBI chr20:47,966,513...48,192,747
Ensembl chr20:47,966,583...48,192,743 		JBrowse link
combined oxidative phosphorylation deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706 		JBrowse link
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350 		JBrowse link
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:21119709, PMID:28216230, PMID:28492532 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439 		JBrowse link
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597 		JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISS OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 MouseDO NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937 		JBrowse link
G RGD1563482 similar to hypothetical protein FLJ38663 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346 		JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189 		JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar Annotator: match by OMIM:609060		 OMIM
ClinVar		 PMID:15537906, PMID:17160893, PMID:21119709, PMID:21986555, PMID:22277967, PMID:24033266, PMID:25741868, PMID:25852744, PMID:28216230, PMID:28492532, PMID:30311386, PMID:32313153 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514 		JBrowse link
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 10
ClinVar Annotator: match by term: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
ClinVar Annotator: match by OMIM:614702		 OMIM
ClinVar		 PMID:22608499, PMID:23929671, PMID:24033266, PMID:25058219, PMID:25741868, PMID:25741892, PMID:26061759, PMID:27256614, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937 		JBrowse link
combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11
ClinVar Annotator: match by OMIM:614922
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:18835491, PMID:23022098, PMID:23022099, PMID:24033266, PMID:25058219, PMID:25326635, PMID:25604853, PMID:25741868, PMID:26238252, PMID:26395190, PMID:27159321, PMID:27350610, PMID:27412952, PMID:27843092, PMID:32576985 NCBI chr 1:40,948,843...40,982,669
Ensembl chr 1:40,948,847...40,972,826 		JBrowse link
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12
ClinVar Annotator: match by OMIM:614924		 OMIM
ClinVar		 PMID:22492562, PMID:23008233, PMID:25058219, PMID:25741868, PMID:25854774, PMID:26619324, PMID:26741492, PMID:26780086, PMID:28492532, PMID:28748214, PMID:28748215 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350 		JBrowse link
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13
ClinVar Annotator: match by OMIM:614932		 OMIM
ClinVar		 PMID:23084291, PMID:24088041, PMID:25326635, PMID:25457163, PMID:25741868, PMID:26633545, PMID:27759031, PMID:28492532, PMID:30046113, PMID:32313153 NCBI chr14:113,530,470...113,561,645
Ensembl chr14:113,530,470...113,561,645 		JBrowse link
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 OMIM
ClinVar		 PMID:21234346, PMID:22499341, PMID:22833457, PMID:24161539, PMID:25558065, PMID:25741868, PMID:25851414, PMID:26553276, PMID:27095821, PMID:27549011, PMID:27652284, PMID:28043061, PMID:28419689, PMID:28492532, PMID:29126765, PMID:30177229, PMID:30869852 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668 		JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:24161539, PMID:25741868 NCBI chr17:29,439,042...29,552,773
Ensembl chr17:29,438,980...29,552,790 		JBrowse link
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15
ClinVar Annotator: match by OMIM:614947		 OMIM
ClinVar		 PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		JBrowse link
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by OMIM:615395 OMIM
ClinVar		 PMID:23315540, PMID:25326637 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144 		JBrowse link
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17
ClinVar Annotator: match by OMIM:615440		 OMIM
ClinVar		 PMID:10986046, PMID:11175785, PMID:11507049, PMID:11522646, PMID:12515253, PMID:12522685, PMID:15863270, PMID:23849775, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr10:51,478,378...51,501,167
Ensembl chr10:51,478,378...51,501,165 		JBrowse link
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sfxn4 sideroflexin 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 18
ClinVar Annotator: match by OMIM:615578		 OMIM
ClinVar		 PMID:24119684, PMID:25741868 NCBI chr 1:282,213,610...282,236,851
Ensembl chr 1:282,213,675...282,235,974 		JBrowse link
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19
ClinVar Annotator: match by OMIM:615595		 OMIM
ClinVar		 PMID:23814038, PMID:25741868 NCBI chr17:29,439,042...29,552,773
Ensembl chr17:29,438,980...29,552,790 		JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by OMIM:610498 OMIM
ClinVar		 PMID:15505824 NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694 		JBrowse link
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 OMIM
ClinVar		 PMID:21708121, PMID:23433712, PMID:24827421, PMID:25058219, PMID:25741868, PMID:27290639, PMID:27502409, PMID:29314548, PMID:31064326 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514 		JBrowse link
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 OMIM
ClinVar		 PMID:24827421, PMID:25741868 NCBI chr 2:197,861,071...197,881,347
Ensembl chr 2:197,861,115...197,878,142 		JBrowse link
combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 OMIM
ClinVar		 PMID:23596069 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495 		JBrowse link
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 OMIM
ClinVar		 PMID:25434004, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:19,897,135...19,902,226
Ensembl chr16:19,896,986...19,902,245 		JBrowse link
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 OMIM
ClinVar		 PMID:22237560, PMID:25385316, PMID:25629079, PMID:25741868, PMID:25807530, PMID:26467025, PMID:28077841, PMID:30327238 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700 		JBrowse link
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 OMIM
ClinVar		 PMID:25754315 NCBI chr 9:64,434,814...64,437,730
Ensembl chr 9:64,434,904...64,436,664
Ensembl chr 9:64,434,904...64,436,664 		JBrowse link
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 OMIM
ClinVar		 PMID:2544623, PMID:25741868, PMID:26189817, PMID:28492532 NCBI chr 6:96,164,579...96,171,680
Ensembl chr 6:96,153,014...96,171,779 		JBrowse link
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27		 OMIM
ClinVar		 PMID:25361775, PMID:25741868, PMID:25787132, PMID:28492532, PMID:30139652 NCBI chr16:83,288,613...83,325,706
Ensembl chr16:83,288,664...83,325,699 		JBrowse link
combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a26 solute carrier family 25 member 26 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 ClinVar
OMIM		 PMID:26522469 NCBI chr 4:126,522,335...126,615,402
Ensembl chr 4:126,522,326...126,615,314 		JBrowse link
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txn2 thioredoxin 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 ClinVar
OMIM		 PMID:26626369 NCBI chr 7:119,144,350...119,158,173
Ensembl chr 7:119,144,351...119,158,201 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:17033963, PMID:20435138, PMID:21119709, PMID:21169334, PMID:21741925, PMID:22277967, PMID:22499341, PMID:25037205, PMID:25741868, PMID:28492532 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346 		JBrowse link
combined oxidative phosphorylation deficiency 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 ClinVar
OMIM		 PMID:27132592 NCBI chr11:47,047,342...47,052,420
Ensembl chr11:47,047,342...47,052,418 		JBrowse link
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 31		 ClinVar
OMIM		 PMID:24033266, PMID:25741868, PMID:27799064, PMID:28492532 NCBI chr15:41,084,180...41,192,621
Ensembl chr15:41,084,206...41,190,005 		JBrowse link
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32		 ClinVar
OMIM		 PMID:2877793, PMID:25741868, PMID:28492532, PMID:28777931 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132 		JBrowse link
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qbp complement C1q binding protein ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 ClinVar
OMIM		 PMID:28942965 NCBI chr10:57,613,876...57,618,527
Ensembl chr10:57,613,879...57,618,527 		JBrowse link
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 ClinVar
OMIM		 PMID:9063420, PMID:25556185, PMID:25741868 NCBI chr10:104,155,805...104,158,840
Ensembl chr10:104,155,805...104,158,839 		JBrowse link
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: TRIT1 Deficiency
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35		 ClinVar
OMIM		 PMID:24901367, PMID:25741868, PMID:26857223, PMID:28185376 NCBI chr 5:140,711,943...140,756,893
Ensembl chr 5:140,712,583...140,756,085 		JBrowse link
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 ClinVar
OMIM		 PMID:25741868, PMID:29576219 NCBI chr 3:7,051,695...7,056,726
Ensembl chr 3:7,051,695...7,058,521 		JBrowse link
combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Micos13 mitochondrial contact site and cristae organizing system subunit 13 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 ClinVar
OMIM		 PMID:27485409, PMID:27623147, PMID:29618761 NCBI chr 9:10,446,567...10,449,566
Ensembl chr 9:10,446,699...10,449,566 		JBrowse link
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 ClinVar
OMIM		 PMID:30358850 NCBI chr13:77,940,454...77,946,201
Ensembl chr13:77,940,454...77,946,201 		JBrowse link
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 ClinVar
OMIM		 PMID:22700954, PMID:26016410, PMID:29075935 NCBI chr 2:27,949,195...27,984,045
Ensembl chr 2:27,949,208...27,984,256 		JBrowse link
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4
ClinVar Annotator: match by OMIM:610678		 OMIM
ClinVar		 PMID:17160893, PMID:26741492, PMID:28492532 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189 		JBrowse link
combined oxidative phosphorylation deficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 OMIM
ClinVar		 PMID:26741492, PMID:29440775, PMID:30283131 NCBI chr20:48,855,839...48,881,112
Ensembl chr20:48,855,914...48,881,119 		JBrowse link
combined oxidative phosphorylation deficiency 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatb glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 ClinVar
OMIM		 PMID:30283131 NCBI chr 2:184,600,695...184,679,980
Ensembl chr 2:184,600,721...184,679,683 		JBrowse link
combined oxidative phosphorylation deficiency 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatc glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 ClinVar
OMIM		 PMID:30283131 NCBI chr12:47,031,545...47,039,556
Ensembl chr12:46,989,951...47,039,542
Ensembl chr12:46,989,951...47,039,542 		JBrowse link
combined oxidative phosphorylation deficiency 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm22 translocase of inner mitochondrial membrane 22 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 OMIM
ClinVar		 PMID:22638997, PMID:30452684 NCBI chr10:64,556,064...64,563,822
Ensembl chr10:64,556,064...64,563,822 		JBrowse link
Combined Oxidative Phosphorylation Deficiency 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 ClinVar
OMIM		 PMID:18771761, PMID:28499982, PMID:31944455 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550 		JBrowse link
combined oxidative phosphorylation deficiency 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl12 mitochondrial ribosomal protein L12 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 ClinVar
OMIM		 PMID:23603806 NCBI chr10:109,658,032...109,662,535
Ensembl chr10:109,658,032...109,662,535 		JBrowse link
combined oxidative phosphorylation deficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 ClinVar
OMIM		 PMID:26741492 NCBI chr10:75,527,265...75,536,767
Ensembl chr10:75,529,009...75,536,767 		JBrowse link
combined oxidative phosphorylation deficiency 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps28 mitochondrial ribosomal protein S28 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 ClinVar
OMIM		 PMID:30566640 NCBI chr 2:95,077,577...95,080,825
Ensembl chr 2:95,045,034...95,173,753 		JBrowse link
combined oxidative phosphorylation deficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 OMIM
ClinVar		 PMID:27356879, PMID:32671698 NCBI chr11:38,535,971...38,590,274
Ensembl chr11:38,536,165...38,590,107 		JBrowse link
combined oxidative phosphorylation deficiency 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 OMIM
ClinVar		 PMID:29361167 NCBI chr10:46,969,531...46,975,572
Ensembl chr10:46,972,038...46,974,806 		JBrowse link
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5
ClinVar Annotator: match by OMIM:611719		 OMIM
ClinVar		 PMID:17873122, PMID:21189481, PMID:25741868, PMID:28492532, PMID:29096039, PMID:30311386 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597 		JBrowse link
combined oxidative phosphorylation deficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 OMIM
ClinVar		 PMID:31039582 NCBI chr 4:124,036,654...124,048,417
Ensembl chr 4:124,036,655...124,048,417 		JBrowse link
combined oxidative phosphorylation deficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 ClinVar
OMIM		 PMID:30607703 NCBI chr 4:99,795,646...99,822,960
Ensembl chr 4:99,795,656...99,822,992 		JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:20362274, PMID:22019070, PMID:25583628, PMID:25741868, PMID:26173962, PMID:26467025, PMID:28492532 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274, PMID:22019070, PMID:25583628, PMID:25741868, PMID:26173962, PMID:26467025, PMID:28492532 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:37,700,282...37,766,487
Ensembl chr12:37,702,404...37,768,957 		JBrowse link
G RGD1563482 similar to hypothetical protein FLJ38663 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar		 PMID:20598281, PMID:24033266, PMID:24284555, PMID:24424123, PMID:25326635, PMID:25741868, PMID:26539891, PMID:27858754, PMID:28492532, PMID:32581362 NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616 		JBrowse link
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8
ClinVar Annotator: match by OMIM:614096		 OMIM
ClinVar		 PMID:21549344, PMID:22277967, PMID:24033266, PMID:24808023, PMID:25058219, PMID:25705216, PMID:25741868, PMID:27839525, PMID:28492532, PMID:29440775, PMID:30054184, PMID:30311386 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy ClinVar PMID:26008905 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 OMIM
ClinVar		 PMID:21786366, PMID:27815843 NCBI chr 8:113,603,533...113,626,893
Ensembl chr 8:113,603,533...113,626,893 		JBrowse link
Cowden-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10749983, PMID:10848731, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11504908, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17873882, PMID:18558293, PMID:18725974, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20881644, PMID:21194675, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22381246, PMID:22479427, PMID:22491738, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:26773036, PMID:27426521, PMID:27477328, PMID:28286253, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
cytochrome-c oxidase deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa3 cytochrome C oxidase assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:25604084 NCBI chr10:89,198,750...89,199,731
Ensembl chr10:89,198,749...89,199,736 		JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:25175347, PMID:25741868 NCBI chr 6:136,185,772...136,210,936
NCBI chr 6:136,279,476...136,304,317
Ensembl chr 6:136,185,487...136,210,940
Ensembl chr 6:136,185,487...136,210,940 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO
ISS		 ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency		 ClinVar
MouseDO		 PMID:12928484, PMID:23814038, PMID:25741868, PMID:28492532, PMID:32313153 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar PMID:25741868 NCBI chr13:96,219,853...96,224,023
Ensembl chr13:96,219,853...96,224,023 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency		 ClinVar PMID:18499082, PMID:24781756, PMID:28492532 NCBI chr 1:89,075,987...89,084,834
Ensembl chr 1:89,075,975...89,084,859
Ensembl chr 2:89,075,975...89,084,859 		JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:26685157 NCBI chr 1:222,466,575...222,468,896
Ensembl chr 1:222,466,575...222,468,896 		JBrowse link
G Cpo carboxypeptidase O ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 9:70,603,023...70,641,290 JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:263,511,537...263,526,308
Ensembl chr 1:263,511,537...263,526,307 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:18771761, PMID:25326635, PMID:25497598, PMID:25741868, PMID:25842391, PMID:28492532, PMID:30311386 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO RGD PMID:12529507 RGD:1600676 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Mdh1b malate dehydrogenase 1B ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 9:70,403,612...70,450,204
Ensembl chr 9:70,404,093...70,450,170 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cytochrome c oxidase i deficiency		 ClinVar PMID:9832034, PMID:10441567, PMID:12140182, PMID:16284789 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:10205264, PMID:10486321, PMID:11471180, PMID:11558799 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by null ClinVar PMID:8630495, PMID:9634511, PMID:11063732, PMID:12414820 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency		 ClinVar PMID:23643385, PMID:25741868, PMID:25959673, PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency		 ClinVar PMID:24462369, PMID:25293719, PMID:25741868, PMID:32313153 NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO
ISS		 ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency		 ClinVar
MouseDO		 PMID:25741868, PMID:28492532 NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency		 CTD
ClinVar		 PMID:9837813, PMID:9843204, PMID:10636738, PMID:10647889, PMID:10746561, PMID:15214016, PMID:21937992, PMID:23829769, PMID:25741868 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by OMIM:220110		 CTD
ClinVar		 PMID:19503089, PMID:20727754, PMID:25741868, PMID:28492532 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:12529715, PMID:23643385, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)		 ClinVar
CTD
OMIM		 PMID:8841189, PMID:10878669, PMID:11405816, PMID:11601506, PMID:11803487, PMID:15037720, PMID:15710860, PMID:16411215, PMID:17851739, PMID:17936919, PMID:24033266, PMID:15710860, PMID:17471106, PMID:11601506 RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:105,351,714...105,355,722
Ensembl chr  X:105,352,402...105,355,716 		JBrowse link
Deoxyguanosine Kinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26342080 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form ClinVar PMID:23714749, PMID:23829229, PMID:25741868, PMID:26437932, PMID:28492532, PMID:28673863, PMID:30298599 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26342080 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form ClinVar PMID:27448789 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151 		JBrowse link
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Hypomyelination, global cerebral
ClinVar Annotator: match by OMIM:612949		 OMIM
ClinVar		 PMID:19641205, PMID:24515575, PMID:24973975, PMID:25741868, PMID:28492532 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346 		JBrowse link
encephalopathy due to defective mitochondrial and peroxisomal fission 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
ClinVar Annotator: match by OMIM:614388		 OMIM
ClinVar		 PMID:15364948, PMID:17460227, PMID:18414213, PMID:20696759, PMID:25326635, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:29877124, PMID:30850373 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198 		JBrowse link
G Osbpl7 oxysterol binding protein-like 7 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr10:84,986,330...85,003,947
Ensembl chr10:84,986,328...85,004,562 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1		 ClinVar PMID:15364948, PMID:17460227, PMID:18414213, PMID:20696759, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:29877124, PMID:30850373 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377 		JBrowse link
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mff mitochondrial fission factor ISO ClinVar Annotator: match by term: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2		 ClinVar
OMIM		 PMID:22499341, PMID:25558065, PMID:25741868, PMID:26783368 NCBI chr 9:88,490,280...88,518,517
Ensembl chr 9:88,493,593...88,517,827 		JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO OMIM NCBI chr 8:22,086,534...22,091,450
Ensembl chr 8:22,086,534...22,091,450 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:16155110, PMID:25741868, PMID:30311386 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698 		JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:25741868, PMID:26541337, PMID:29327420, PMID:29923093, PMID:30237576 NCBI chr16:20,962,144...21,000,191
Ensembl chr16:20,962,227...20,985,225 		JBrowse link
ethylmalonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ethe1 ETHE1, persulfide dioxygenase ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy
ClinVar Annotator: match by OMIM:602473		 OMIM
ClinVar		 PMID:14732903, PMID:16183799, PMID:16828325, PMID:18593870, PMID:19136963, PMID:19289697, PMID:20528888, PMID:25198162, PMID:25326637, PMID:25741868, PMID:26194623, PMID:27391121, PMID:27830356, PMID:28492532, PMID:28933811, PMID:30311386, PMID:30349987, PMID:32860008 NCBI chr 1:81,457,008...81,472,061
Ensembl chr 1:81,456,984...81,472,097 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar		 PMID:15105459, PMID:16525029, PMID:18829051, PMID:19633821, PMID:25326635, PMID:25741868, PMID:28492532, PMID:32860008 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 ClinVar
OMIM		 PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952, PMID:10749987, PMID:11673586, PMID:12020273, PMID:14970747, PMID:14994243, PMID:16326995, PMID:18924171, PMID:23643385, PMID:25741868, PMID:25959673, PMID:28492532, PMID:30311386 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715, PMID:23643385, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876 		JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by OMIM:615119
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2		 ClinVar
OMIM		 PMID:2175025, PMID:12474143, PMID:15235026, PMID:15863660, PMID:21412973, PMID:22310368, PMID:25741868, PMID:26959537, PMID:28492532 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM		 PMID:21457908 NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ClinVar
OMIM		 PMID:22277967, PMID:24549041, PMID:25339201, PMID:25959673, PMID:26160915 NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:220111		 OMIM
ClinVar
CTD		 PMID:12529507, PMID:15139850, PMID:17050673, PMID:18414213, PMID:20200222, PMID:21266382, PMID:21437181, PMID:22494076, PMID:24033266, PMID:25741868, PMID:26510951, PMID:26741492, PMID:27408822, PMID:27574110, PMID:28492532, PMID:29152527, PMID:30311386 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO DNA:point mutation:exon:p.G130V
ClinVar Annotator: match by term: Friedreich's ataxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Friedreich's ataxia
DNA:repeat:intron:GAA (human)		 ClinVar
CTD		 PMID:8596916, PMID:9150176, PMID:9700204, PMID:9737785, PMID:9989622, PMID:10543403, PMID:10732799, PMID:11020385, PMID:11030757, PMID:11843702, PMID:12019217, PMID:12923074, PMID:16120311, PMID:16239244, PMID:16911956, PMID:17101455, PMID:17331979, PMID:17703324, PMID:18537827, PMID:19494730, PMID:19629184, PMID:20098685, PMID:21298097, PMID:22016819, PMID:23418481, PMID:26339677, PMID:26467025, PMID:26704351, PMID:26954031, PMID:28812047, PMID:29272104, PMID:30451920, PMID:10543403, PMID:8596916 RGD:1598961, RGD:1582636 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar		 PMID:26467025 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358		 OMIM
ClinVar		 PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19285991, PMID:19389488, PMID:19508421, PMID:20518024, PMID:20727375, PMID:21274865, PMID:22277166, PMID:22310368, PMID:23892085, PMID:24033266, PMID:24236502, PMID:24655110, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:26489029, PMID:27959697, PMID:28105683, PMID:28322498, PMID:28492532, PMID:28496993, PMID:29090881, PMID:31435670 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462		 OMIM
ClinVar		 PMID:2152680, PMID:22152680, PMID:24334290, PMID:26467025, PMID:27923773, PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252 		JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845 		JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18571143, PMID:25741868, PMID:27405012, PMID:18571143 RGD:12910473 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674 		JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009 		JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151 		JBrowse link
Late-Onset Carnitine Palmitoyltransferase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
ClinVar Annotator: match by OMIM:255110		 OMIM
ClinVar		 PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10873395, PMID:11855939, PMID:12410208, PMID:12673791, PMID:12707442, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18363739, PMID:18550408, PMID:19762733, PMID:20301431, PMID:20661589, PMID:20810031, PMID:21227726, PMID:21913903, PMID:22652984, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:24033266, PMID:24398345, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25919294, PMID:27123472, PMID:27629963, PMID:28492532, PMID:28516040, PMID:28779239 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089 		JBrowse link
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376 		JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
DNA:transition:CDS:c.8668T>C, p.W48R (human)		 ClinVar
CTD		 PMID:7726182, PMID:19026397, PMID:20454697 RGD:5490293, RGD:5508187 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy		 CTD
ClinVar		 PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:25741868, PMID:30311386 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by OMIM:535000
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1732158, PMID:1764087, PMID:7901141, PMID:8240104, PMID:8321540, PMID:8755941, PMID:25741868 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T (human)		 ClinVar
CTD		 PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:8496715, PMID:11479733, PMID:11854175, PMID:12112111, PMID:12205655, PMID:15342361, PMID:15466014, PMID:15505787, PMID:15972314, PMID:16738010, PMID:16969869, PMID:17562939, PMID:17620555, PMID:18216301, PMID:19497304, PMID:19555656, PMID:22879922, PMID:24569607, PMID:24830958, PMID:24884847, PMID:25194554, PMID:27449621, PMID:29991444, PMID:11479733, PMID:12112111, PMID:22577081, PMID:2018041, PMID:19324017, PMID:20454697 RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:transversion:CDS:c.4852T>A, p.L128Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000		 CTD
ClinVar		 PMID:1732158, PMID:1900003, PMID:11479733, PMID:20454697 RGD:5508187 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Leber's optic atrophy		 ClinVar PMID:12227465, PMID:17152068, PMID:17413873, PMID:19458970, PMID:19458970 RGD:5508703 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)		 ClinVar
CTD		 PMID:1346348, PMID:1352537, PMID:1469456, PMID:1734726, PMID:1763894, PMID:1770533, PMID:1770665, PMID:1866007, PMID:1900003, PMID:1937476, PMID:1959619, PMID:1959931, PMID:2039048, PMID:2222273, PMID:2286378, PMID:2346190, PMID:2346203, PMID:2390098, PMID:2566021, PMID:2566116, PMID:2575667, PMID:2817063, PMID:3201231, PMID:8101084, PMID:8240101, PMID:8240102, PMID:8448903, PMID:8449667, PMID:8457609, PMID:8474822, PMID:8489402, PMID:8489411, PMID:8644732, PMID:9150158, PMID:11169561, PMID:11854175, PMID:12402249, PMID:12560876, PMID:12707444, PMID:15342361, PMID:15576045, PMID:16120329, PMID:16431939, PMID:16477364, PMID:16532388, PMID:18771762, PMID:19026397, PMID:24569607, PMID:25741868, PMID:3201231, PMID:20454697, PMID:18771762, PMID:19022198, PMID:12436196, PMID:16364244 RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581059, RGD:1581058 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)		 ClinVar
CTD		 PMID:8680405, PMID:11935318, PMID:19394449, PMID:11935318 RGD:5686339, RGD:5686341 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:exon:p.Y159H(human)
DNA:mutation:: m.12338 T>C		 ClinVar
CTD		 PMID:1417830, PMID:1732158, PMID:1764087, PMID:1900003, PMID:8213825, PMID:12509858, PMID:12736867, PMID:15767514, PMID:16240359, PMID:16816025, PMID:17400793, PMID:18332249, PMID:21131053, PMID:27164671, PMID:16240359, PMID:1732158, PMID:16816025, PMID:19022198, PMID:21131053 RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:SNP, haplotypes: :m.14484T>C (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutations, haplotypes:cds:multiple
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)		 ClinVar
CTD		 PMID:1463007, PMID:1634041, PMID:5511487, PMID:7654063, PMID:8016139, PMID:8470982, PMID:8622678, PMID:8644732, PMID:8854108, PMID:9012411, PMID:9177303, PMID:9849804, PMID:10072046, PMID:10631164, PMID:10894222, PMID:11133798, PMID:12112086, PMID:12205655, PMID:12736867, PMID:12827453, PMID:14735585, PMID:15342361, PMID:15922297, PMID:15954041, PMID:16380132, PMID:18674747, PMID:24569607, PMID:29987491, PMID:23665487, PMID:23129651, PMID:24398099, PMID:19732751 RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398 		JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791, PMID:20711738 RGD:12902617, RGD:12902618 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737 		JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15293270, PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842 		JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068, PMID:17413873, PMID:19458970 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973 		JBrowse link
Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
ISS		 ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar
MouseDO		 PMID:9545407, PMID:12215968, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18771761, PMID:19389488, PMID:19508421, PMID:20518024, PMID:22277166, PMID:24033266, PMID:24172246, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:23814038, PMID:25741868, PMID:28492532 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:15863660, PMID:21412973, PMID:22310368, PMID:25741868, PMID:26959537, PMID:28492532, PMID:15235026 RGD:1598467 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:263,511,537...263,526,308
Ensembl chr 1:263,511,537...263,526,307 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25125611, PMID:25393721, PMID:26099313 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:31944455 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:20818383, PMID:22200994, PMID:23757202, PMID:24033266, PMID:25678554, PMID:25741868, PMID:25803036, PMID:28492532, PMID:28654958, PMID:30311386, PMID:30723688 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25130867, PMID:28492532 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO Leigh syndrome French Canadian variant
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:28492532, PMID:17050673, PMID:12529507 RGD:1600674, RGD:1600676 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793, PMID:25741868, PMID:28777931 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:3612192, PMID:7668837, PMID:7726182, PMID:8042671, PMID:8095070, PMID:8190310, PMID:8250532, PMID:8395787, PMID:8554662, PMID:8602753, PMID:8630495, PMID:8644724, PMID:8750605, PMID:9199572, PMID:9270604, PMID:9329425, PMID:9501263, PMID:9556461, PMID:9568930, PMID:9631394, PMID:9762610, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11119722, PMID:11245730, PMID:11371515, PMID:11382202, PMID:11730668, PMID:11731285, PMID:11751691, PMID:11843698, PMID:11916326, PMID:11925565, PMID:14697245, PMID:14998933, PMID:15120634, PMID:16049925, PMID:16050984, PMID:16217706, PMID:17123466, PMID:17352390, PMID:17452590, PMID:17663470, PMID:18055910, PMID:18216301, PMID:18461509, PMID:18495510, PMID:18682780, PMID:19454486, PMID:19626676, PMID:19667215, PMID:20211276, PMID:22110754, PMID:22231385, PMID:22577227, PMID:22789932, PMID:22933740, PMID:23206802, PMID:23266623, PMID:23304069, PMID:24002810, PMID:24088041, PMID:24118886, PMID:24986921, PMID:25741868, PMID:26633545, PMID:26993169, PMID:28027978, PMID:29307858, PMID:30311386, PMID:32313153, PMID:32581362 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1757091, PMID:7633428, PMID:9243242, PMID:11062027, PMID:14697245, PMID:17101920, PMID:18682780, PMID:20207608, PMID:24153443, PMID:25741868, PMID:25941154, PMID:26993169 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:9806551, PMID:9832034, PMID:10577941, PMID:12140182, PMID:13298683, PMID:15647368, PMID:16152638, PMID:17659260, PMID:19460299, PMID:20301595, PMID:22130971, PMID:24713204, PMID:25701779, PMID:25741868, PMID:26467025 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:11799391, PMID:12612282, PMID:17637808, PMID:18337306, PMID:19398658, PMID:22241583, PMID:24931671, PMID:25741868, PMID:26467025, PMID:32313153 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:7496173, PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:11063732, PMID:15823923, PMID:16358358, PMID:17403843, PMID:18587274, PMID:20525945, PMID:23645088, PMID:25741868, PMID:30311386 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:1732158, PMID:1764087, PMID:7901141, PMID:8240104, PMID:8321540, PMID:8755941, PMID:9806551, PMID:10329023, PMID:10453733, PMID:10894993, PMID:10960495, PMID:11047755, PMID:11891837, PMID:12150954, PMID:12905068, PMID:13298683, PMID:17003408, PMID:17637808, PMID:19062322, PMID:19555656, PMID:22241583, PMID:24667782, PMID:25741868, PMID:26566881, PMID:28027978 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh Disease		 ClinVar PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:7624338, PMID:8496715, PMID:9299504, PMID:9806551, PMID:10519336, PMID:10520236, PMID:10521313, PMID:10704697, PMID:11238687, PMID:11854175, PMID:11938495, PMID:12160969, PMID:12205655, PMID:12406974, PMID:12610069, PMID:12756609, PMID:13298683, PMID:14681830, PMID:15465027, PMID:15466014, PMID:15896721, PMID:15972314, PMID:15977098, PMID:16050984, PMID:16738010, PMID:16807713, PMID:16828917, PMID:16849371, PMID:16895436, PMID:16949108, PMID:17454741, PMID:17517629, PMID:17535832, PMID:17620555, PMID:17637808, PMID:18216301, PMID:18502698, PMID:18504678, PMID:18691441, PMID:18977334, PMID:20211276, PMID:20643099, PMID:20978534, PMID:21129724, PMID:21144833, PMID:21296687, PMID:21364701, PMID:22241583, PMID:22780954, PMID:24063851, PMID:24146900, PMID:24153443, PMID:24986921, PMID:25741868, PMID:26262956, PMID:26428318, PMID:26467025, PMID:27177320, PMID:27343181, PMID:28187756, PMID:28708239, PMID:28821228, PMID:29330893, PMID:30311386 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Leigh Disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1900003, PMID:11479733, PMID:11820805, PMID:12406974, PMID:15286228, PMID:16738010, PMID:18682780, PMID:19370763, PMID:25741868, PMID:28187756, PMID:29481798 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA:mutation
ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh Disease
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:6343397, PMID:11456298, PMID:12227465, PMID:14684687, PMID:14705112, PMID:14764913, PMID:15372108, PMID:15576045, PMID:16023078, PMID:17066297, PMID:17152068, PMID:17413873, PMID:17535832, PMID:19458970, PMID:20202874, PMID:25118196, PMID:25741868, PMID:14705112 RGD:5507824 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1323207, PMID:1469456, PMID:3395302, PMID:8213827, PMID:8644732, PMID:12707444, PMID:14581685, PMID:15576045, PMID:15972314, PMID:16120329, PMID:17022785, PMID:25741868, PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:19394449, PMID:20643099, PMID:29444077 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutation: exon:m.13513 G>A (D393N)(human)
ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1417830, PMID:1732158, PMID:1764087, PMID:1900003, PMID:9299505, PMID:10589546, PMID:11102991, PMID:11198278, PMID:11938446, PMID:12624137, PMID:14520659, PMID:14684687, PMID:14730434, PMID:15521990, PMID:15576045, PMID:16306525, PMID:17003408, PMID:17264866, PMID:17317336, PMID:17400793, PMID:17535832, PMID:17940288, PMID:18246027, PMID:18332249, PMID:18524835, PMID:18977334, PMID:21131053, PMID:22780954, PMID:23463613, PMID:25701779, PMID:25741868, PMID:27422531, PMID:29987491, PMID:18495510 RGD:5491185 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14487T>C (p.M63V) (human)
ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:1463007, PMID:1634041, PMID:5511487, PMID:7654063, PMID:8016139, PMID:8470982, PMID:8622678, PMID:8854108, PMID:9012411, PMID:9177303, PMID:9849804, PMID:10072046, PMID:10631164, PMID:10894222, PMID:11241853, PMID:11781695, PMID:12205655, PMID:12736867, PMID:12827453, PMID:14520668, PMID:14595656, PMID:14684687, PMID:14735585, PMID:15576045, PMID:15637703, PMID:15922297, PMID:15954041, PMID:16337195, PMID:16380132, PMID:18524835, PMID:18674747, PMID:19555656, PMID:21457906, PMID:21504270, PMID:21838605, PMID:24088041, PMID:25741868, PMID:26633545, PMID:29987491, PMID:20019223 RGD:6482231 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 7:35,125,516...35,163,182
Ensembl chr 7:35,125,424...35,167,406 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:10649489, PMID:16200211, PMID:16950771, PMID:18180188, PMID:19384974, PMID:20571988, PMID:20818383, PMID:22644603, PMID:25326635, PMID:25741868, PMID:26795593, PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560 		JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:26741492 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leigh syndrome		 CTD
ClinVar		 PMID:8602753, PMID:14729820, PMID:19167255, PMID:19336460, PMID:20818383, PMID:20819849, PMID:22114105, PMID:22499348, PMID:24028823, PMID:25978847, PMID:28031252, PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:c.426delA (human)
DNA:transition:intron:IVS1-1G>A (human)		 ClinVar
CTD		 PMID:9463323, PMID:11112787, PMID:11181577, PMID:12616398, PMID:16213125, PMID:19107570, PMID:19364667, PMID:20818383, PMID:22326555, PMID:24020637, PMID:25741868, PMID:27079373, PMID:28492532, PMID:22535952, PMID:20534480, PMID:22653057, PMID:19107570, PMID:12616398 RGD:6484662, RGD:12914767, RGD:12914766, RGD:6484698, RGD:6484669 NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease		 ClinVar PMID:12468279, PMID:25741868, PMID:28492532 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar PMID:9837812, PMID:20818383, PMID:24595071, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:24642831, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448 		JBrowse link
G Parl presenilin associated, rhomboid-like ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO DNA:missense mutation:cds:p.R554W (human)
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar
OMIM		 PMID:7550341, PMID:11423010, PMID:16195397, PMID:16798039, PMID:17298551, PMID:17376234, PMID:20484225, PMID:20489732, PMID:21505157, PMID:21752896, PMID:21858060, PMID:22677546, PMID:22904323, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24033266, PMID:24448499, PMID:24781757, PMID:25494863, PMID:25720320, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27011036, PMID:27493882, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28546994, PMID:28724664, PMID:28819017, PMID:29177515, PMID:29872718, PMID:29978154, PMID:30050099, PMID:30068732, PMID:30201732, PMID:30311386, PMID:7550341 RGD:724604 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISS OMIM:256000 MouseDO NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9837813, PMID:10443880, PMID:10558868, PMID:10636738, PMID:10746561, PMID:11423010, PMID:12515039, PMID:14557577, PMID:16225813, PMID:16326995, PMID:16542579, PMID:16765830, PMID:18583168, PMID:19780766, PMID:20624914, PMID:20843780, PMID:22488715, PMID:23806086, PMID:23829769, PMID:24027061, PMID:24088041, PMID:24462369, PMID:25326637, PMID:25741868, PMID:26257172, PMID:26443249, PMID:26762927, PMID:27475922, PMID:27756633, PMID:27896082, PMID:28429146, PMID:28492532, PMID:29933018, PMID:9843204 RGD:1599193 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464 		JBrowse link
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr11:64,790,801...64,815,484
Ensembl chr11:64,790,801...64,815,477 		JBrowse link
Leigh Syndrome Due To Mitochondrial Complex I Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by null ClinVar PMID:16738010 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency		 ClinVar PMID:9299505, PMID:10589546, PMID:11938446, PMID:12509858, PMID:12624137, PMID:12796552, PMID:14520659, PMID:14684687, PMID:14730434, PMID:15576045, PMID:15767514, PMID:16306525, PMID:16816025, PMID:17317336, PMID:17400793, PMID:18332249, PMID:25741868 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:7654063, PMID:8016139, PMID:8622678, PMID:10894222, PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:14735585, PMID:15576045, PMID:16337195, PMID:16380132 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
Leigh Syndrome due to Mitochondrial Complex III Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex III deficiency ClinVar PMID:11528392, PMID:17314340, PMID:20518024, PMID:23892085, PMID:24655110, PMID:28492532, PMID:29090881 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197 		JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:7692352, PMID:8032855, PMID:8598634, PMID:23871722, PMID:25741868, PMID:28492532 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410 		JBrowse link
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
ClinVar Annotator: match by term: MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:611105		 OMIM
ClinVar		 PMID:17384640, PMID:19592391, PMID:21493805, PMID:21749991, PMID:21815884, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30352563 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464 		JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar
OMIM		 PMID:24256811, PMID:24341803, PMID:25326635, PMID:25741868 NCBI chr 9:44,466,627...44,471,986
Ensembl chr 9:44,466,627...44,471,986 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: LIPOYLTRANSFERASE 1 DEFICIENCY
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency		 ClinVar PMID:24256811, PMID:24341803, PMID:25326635, PMID:25741868 NCBI chr 9:44,472,364...44,483,723
Ensembl chr 9:44,472,365...44,560,837 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25637381, PMID:25741868, PMID:27879251, PMID:28492532, PMID:31042466 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158 		JBrowse link
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:point mutation: :m.9185T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:transversion: :m.8993T>G (human)
DNA:point mutation: :m.9176T>C (human)		 CTD PMID:27129022, PMID:18461509, PMID:14598233, PMID:15709156 RGD:5490262, RGD:5490291, RGD:5490270 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:p.E59K, p.R159Q (human) RGD PMID:20301352 RGD:5148009 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
MELAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:25037980, PMID:27812026, PMID:29350304 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:127819, PMID:6213205, PMID:7987332, PMID:8019558, PMID:8572257, PMID:9450881, PMID:9742104, PMID:11069477, PMID:11175301, PMID:20301595, PMID:31965079 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO DNA:mutation:exon:m.9957T>C (F251L)(human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:18587274 RGD:5491184 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human)
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15466014, PMID:15972314, PMID:16849371, PMID:16969869, PMID:17535832, PMID:17562939, PMID:18504678, PMID:18590963, PMID:18977334, PMID:21364701, PMID:24830958, PMID:15466014 RGD:5490235 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1323207, PMID:3395302, PMID:8213827 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutations:exons:p. D393N, M237T (human)
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:m.13513G>A (D393N)(human)
DNA:mutation:exon:m.13849A>C (N505H)(human) 		ClinVar
CTD		 PMID:9299505, PMID:10589546, PMID:12509858, PMID:12624137, PMID:12796552, PMID:14520659, PMID:14730434, PMID:15576045, PMID:15767514, PMID:16306525, PMID:16816025, PMID:17400793, PMID:18332249, PMID:18977334, PMID:22249460, PMID:22577219, PMID:25741868, PMID:26894521, PMID:21850008, PMID:10589546, PMID:18587274 RGD:5491173, RGD:5507825, RGD:5491184 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:11781695 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
MERRF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers ClinVar PMID:15767514, PMID:16816025, PMID:17400793, PMID:18332249 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
Mitochondrial Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatb glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr 2:184,600,695...184,679,980
Ensembl chr 2:184,600,721...184,679,683 		JBrowse link
G Gatc glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr12:47,031,545...47,039,556
Ensembl chr12:46,989,951...47,039,542
Ensembl chr12:46,989,951...47,039,542 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Exercise intolerance, cardiomyopathy, and septooptic dysplasia ClinVar PMID:11891837 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:26741492, PMID:30283131 NCBI chr20:48,855,839...48,881,112
Ensembl chr20:48,855,914...48,881,119 		JBrowse link
mitochondrial complex I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISS OMIM:252010 MouseDO NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20818383, PMID:25741868, PMID:28492532 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326 		JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:73,345,129...73,408,304
Ensembl chr 6:73,345,392...73,405,880 		JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830 		JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 NCBI chr10:51,478,378...51,501,167
Ensembl chr10:51,478,378...51,501,165 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by OMIM:252010
ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency
ClinVar Annotator: match by term: Mitochondrial complex I deficiency		 ClinVar PMID:22200994, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28654958, PMID:30311386 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848 		JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170 		JBrowse link
G Hectd1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,509,658...72,596,285
Ensembl chr 6:72,510,255...72,596,446 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466
Ensembl chr 1:31,261,370...31,262,466 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by null ClinVar PMID:1857422, PMID:9854792, PMID:12192017, PMID:15781840 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:12707444, PMID:15576045, PMID:16120329 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266, PMID:25058219 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:22608499, PMID:23929671, PMID:24033266, PMID:25058219, PMID:25741892, PMID:28492532 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISS