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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:cytochrome-c oxidase deficiency disease
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Accession:DOID:3762 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)
Synonyms:exact_synonym: Complex IV Deficiency;   Cox Deficiencies;   Cox Deficiency;   Cytochrome Oxidase Deficiencies;   Cytochrome Oxidase Deficiency;   Cytochrome c Oxidase I Deficiency;   complex IV deficiencies;   cytochrome-c oxidase deficiencies;   cytochrome-c oxidase deficiency;   early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency;   lethal neonatal hypertrophic cardiomyopathy due to cytochrome c oxidase deficiency;   mitochondrial complex IV deficiency;   mitochondrial cytochrome c oxidase deficiency
 narrow_synonym: sensorineural deafness with neurologic features
 primary_id: MESH:D030401
 xref: EFO:0009298;   GARD:48;   NCI:C98910;   OMIM:PS220110
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
cytochrome-c oxidase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOPT1 apoptogenic 1, mitochondrial ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25175347 PMID:25741868 PMID:28492532
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9536098 PMID:12928484 PMID:17576681 PMID:22669974 PMID:23814038 More... NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,817...58,109,185 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:28492532 NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
G COX18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25741868 NCBI chr 8:69,274,420...69,354,969
Ensembl chr 8:69,341,198...69,354,894 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30656193 More... NCBI chr10:17,471,837...17,477,394
Ensembl chr10:17,471,908...17,477,392 		JBrowse link
G COX6B COX6B protein ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 NCBI chr 6:45,091,829...45,102,785
Ensembl chr 6:45,091,895...45,102,669 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25741868 PMID:26685157 NCBI chr 2:8,101,609...8,103,313
Ensembl chr 2:8,101,613...8,103,285 		JBrowse link
G CUTC cutC copper transporter ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr14:110,895,063...110,921,544
Ensembl chr14:110,895,067...110,925,428 		JBrowse link
G ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr14:110,827,833...110,877,972
Ensembl chr14:110,827,914...110,882,575 		JBrowse link
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 More... NCBI chr15:110,021,398...110,041,730
Ensembl chr15:110,021,469...110,043,116 		JBrowse link
G LOC100518575 cytochrome c oxidase assembly factor 3 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25604084 NCBI chr12:20,062,831...20,063,984
Ensembl chr12:20,062,826...20,063,980 		JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:28492532 NCBI chr15:125,732,419...125,739,819
Ensembl chr15:125,732,387...125,740,085 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Cytochrome c oxidase I deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9832034 PMID:10441567 PMID:12140182 PMID:16284789 PMID:32906214 NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:8630495 PMID:9634511 PMID:11063732 PMID:12414820 PMID:25741868 More... NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 PMID:28518168 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr 2:71,519,395...71,520,820
Ensembl chr 2:71,519,392...71,520,886 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:25959673 PMID:26467025 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 More... NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
G TACO1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr12:15,308,309...15,312,906
Ensembl chr12:15,307,520...15,312,723 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,866 		JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:6,761,734...6,883,555
Ensembl chr 1:6,772,417...6,883,551 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,556,083...8,562,865
Ensembl chr 1:8,556,059...8,563,676 		JBrowse link
G EZR ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,403,362...8,452,750
Ensembl chr 1:8,403,453...8,452,742 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,007,320...8,106,875
Ensembl chr 1:8,007,321...8,081,817 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,928,280...8,935,030
Ensembl chr 1:8,917,240...8,934,983 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:6,891,255...7,049,784
Ensembl chr 1:6,891,265...7,049,775 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838 		JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,581,763...7,590,037
Ensembl chr 1:7,581,764...7,590,031 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,192...7,110,555 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,560,084...7,580,062
Ensembl chr 1:7,559,745...7,579,197 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872 		JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,243,177...8,265,816
Ensembl chr 1:8,244,040...8,265,659 		JBrowse link
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 term: MEGDEL syndrome OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,105,486...7,207,395
Ensembl chr 1:7,110,074...7,207,401 		JBrowse link
G SOD2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SYTL3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,452,822...8,546,637
Ensembl chr 1:8,453,283...8,546,530 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,209,298...8,217,993
Ensembl chr 1:8,209,314...8,219,630 		JBrowse link
G TCP1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,590,140...7,600,709
Ensembl chr 1:7,590,140...7,601,795 		JBrowse link
G TMEM181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,564,752...8,642,358
Ensembl chr 1:8,562,844...8,635,462 		JBrowse link
G TULP4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,650,811...8,891,596 JBrowse link
G WTAP WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,622,544...7,651,732
Ensembl chr 1:7,622,547...7,651,961 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name 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:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian OMIM
ClinVar		 PMID:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 More... NCBI chr 3:96,474,510...96,590,706
Ensembl chr 3:96,474,549...96,595,143 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,497,661...272,625,668
Ensembl chr 1:272,497,662...272,625,660 		JBrowse link
G ATP5PO ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:35621276 NCBI chr13:197,509,331...197,519,530
Ensembl chr13:197,509,331...197,519,588 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9545407 PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 More... NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,045,620...273,066,916
Ensembl chr 1:273,056,532...273,066,914 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,003...272,770,255 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,216,581...272,362,321
Ensembl chr 1:272,217,072...272,361,733 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:23665194 PMID:23814038 PMID:25741868 More... NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,817...58,109,185 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 More... NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
G CUTC cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr14:110,895,063...110,921,544
Ensembl chr14:110,895,067...110,925,428 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,383,585...272,454,395
Ensembl chr 1:272,383,595...272,453,979 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25393721 PMID:25741868 PMID:28492532 PMID:32677908 PMID:33139125 More... NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28777931 NCBI chr 3:40,190,545...40,193,994
Ensembl chr 3:40,186,846...40,193,957 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr14:110,827,833...110,877,972
Ensembl chr14:110,827,914...110,882,575 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,156,749...273,186,756
Ensembl chr 1:273,156,751...273,186,756 		JBrowse link
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:31944455 NCBI chr15:110,021,398...110,041,730
Ensembl chr15:110,021,469...110,043,116 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 More... NCBI chr 1:65,872,119...65,936,442
Ensembl chr 1:65,872,123...65,935,703 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:274,106,276...274,111,970
Ensembl chr 1:274,103,877...274,111,970 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,827,930...272,836,460
Ensembl chr 1:272,827,934...272,836,449 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,454,488...272,479,968
Ensembl chr 1:272,454,503...272,479,952 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,743,527...272,760,055 JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25130867 PMID:25741868 PMID:28492532 NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LOXL3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 3:68,498,114...68,516,829
Ensembl chr 3:68,498,189...68,517,445 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:96,474,510...96,590,706
Ensembl chr 3:96,474,549...96,595,143 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,956,119...272,961,618
Ensembl chr 1:272,955,473...272,961,596 		JBrowse link
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:8602753 PMID:25741868 PMID:37133451 NCBI chr13:189,148,711...189,166,302
Ensembl chr13:189,148,603...189,167,880 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 PMID:25741868 PMID:28777931 NCBI chr 3:40,194,078...40,195,316
Ensembl chr 3:40,193,033...40,195,018 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:1757091 PMID:2137962 More... NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7496173 More... NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		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 Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 More... NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1417830 PMID:1436530 PMID:1442494 PMID:1539598 PMID:1550128 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:6343397 More... NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1323207 PMID:1436530 PMID:1469456 PMID:1539598 PMID:1550128 More... NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 More... NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		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 More... NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:1900003 PMID:2137962 More... NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897 		JBrowse link
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:35141356 NCBI chr 5:88,292,760...88,317,111 JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 2:58,401,542...58,410,414
Ensembl chr 2:58,401,551...58,411,981 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:142,359,000...142,361,126
Ensembl chr 2:142,359,007...142,361,131 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:22644603 PMID:25326635 More... NCBI chr16:39,770,398...39,950,786
Ensembl chr16:39,770,466...39,950,785 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25326635 PMID:25356970 More... NCBI chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:25741916 More... NCBI chr 4:41,619,480...41,655,682
Ensembl chr 4:41,621,174...41,655,792 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:9463323 PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 More... NCBI chr16:32,874,418...32,985,638
Ensembl chr16:32,874,450...32,987,828 		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 Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chr 2:77,080,311...77,087,141 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 More... NCBI chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,886,871...272,890,537 JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:274,236,241...274,261,322
Ensembl chr 1:274,224,454...274,261,328 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G PARL presenilin associated rhomboid like ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638 		JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr14:109,701,807...109,730,459
Ensembl chr14:109,704,136...109,728,874 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,776,844...272,824,179
Ensembl chr 1:272,776,846...272,824,184 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,734...273,021,938 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,961,421...272,965,636
Ensembl chr 1:272,959,831...272,965,634 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,230,375...273,294,621 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 More... NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO OMIM:256000 MouseDO NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G SETX senataxin ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 ISO Necrotising encephalopathy, subacute, of Leigh OMIA PMID:8844603 PMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 More... NCBI chr15:129,071,563...129,096,338
Ensembl chr15:129,071,582...129,096,282 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,063,261...273,075,455
Ensembl chr 1:273,063,270...273,075,391 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G SOD2 superoxide dismutase 2 ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,625,701...272,635,406
Ensembl chr 1:272,625,712...272,636,346 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,988,767...273,012,007
Ensembl chr 1:272,995,842...273,011,443 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 More... NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,970,522...272,976,188
Ensembl chr 1:272,970,548...272,975,293 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,975,164...272,988,683
Ensembl chr 1:272,975,160...272,988,688 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,949,236...272,955,674
Ensembl chr 1:272,949,247...272,955,197 		JBrowse link
G TACO1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr12:15,308,309...15,312,906
Ensembl chr12:15,307,520...15,312,723 		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 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr13:140,728,559...140,758,698
Ensembl chr13:140,730,495...140,758,607 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:142,352,006...142,359,040
Ensembl chr 2:142,352,030...142,359,036 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:272,180,488...272,212,504
Ensembl chr 1:272,180,498...272,212,478 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,303,142...273,476,250
Ensembl chr 1:273,303,144...273,476,207 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 1:273,560,274...273,577,827
Ensembl chr 1:273,560,283...273,578,063 		JBrowse link
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797 		JBrowse link
Leigh Syndrome Due To Mitochondrial Complex I Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:9299505 PMID:10589546 PMID:11938446 PMID:12509858 PMID:12624137 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		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 More... NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:16738010 NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128 		JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:1293379 PMID:3034892 PMID:9671272 PMID:20002461 PMID:21846590 More... NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:26,014,954...26,094,895
Ensembl chr 2:26,014,970...26,103,402 		JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25022261 PMID:25326637 PMID:25741868 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25637381 PMID:25741868 PMID:28492532 PMID:31042466 NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340 		JBrowse link
G LIPT1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency OMIM
ClinVar		 PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chr 3:55,176,387...55,177,508 JBrowse link
G MITD1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chr 3:55,054,475...55,078,180
Ensembl chr 3:55,054,517...55,069,866 		JBrowse link
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO CTD Direct Evidence: marker/mechanism
DNA:point mutation: :m.9185T>C (human)
DNA:transversion: :m.8993T>G (human)
DNA:point mutation: :m.9176T>C (human)		 CTD
RGD		 PMID:14598233 PMID:15709156 PMID:18461509 PMID:27129022 RGD:5490262 RGD:5490270 RGD:5490291 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		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:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
mitochondrial complex IV deficiency nuclear type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOPT1 apoptogenic 1, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 PMID:25741868 PMID:28492532
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:22669974 PMID:23814038 PMID:24100867 PMID:25741868 More... NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,817...58,109,185 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30656193 More... NCBI chr10:17,471,837...17,477,394
Ensembl chr10:17,471,908...17,477,392 		JBrowse link
G COX6B COX6B protein ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:45,091,829...45,102,785
Ensembl chr 6:45,091,895...45,102,669 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:8630495 PMID:12414820 PMID:32906214 NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr 2:71,519,395...71,520,820
Ensembl chr 2:71,519,392...71,520,886 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO OMIM NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
G TACO1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr12:15,308,309...15,312,906
Ensembl chr12:15,307,520...15,312,723 		JBrowse link
mitochondrial complex IV deficiency nuclear type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110260660 cytochrome c oxidase assembly protein COX14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar		 PMID:22243966 PMID:25741868 PMID:28492532 NCBI chr 5:16,016,419...16,021,676
Ensembl chr 5:16,021,272...16,021,445 		JBrowse link
mitochondrial complex IV deficiency nuclear type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23125284 PMID:24202787 PMID:25741868 More... NCBI chr10:17,471,837...17,477,394
Ensembl chr10:17,471,908...17,477,392 		JBrowse link
mitochondrial complex IV deficiency nuclear type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PET100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 More... NCBI chr 2:71,519,395...71,520,820
Ensembl chr 2:71,519,392...71,520,886 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 ClinVar PMID:9536098 PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 More... NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422 		JBrowse link
mitochondrial complex IV deficiency nuclear type 13 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chr14:56,751,142...56,758,956 JBrowse link
mitochondrial complex IV deficiency nuclear type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100518575 cytochrome c oxidase assembly factor 3 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 OMIM
ClinVar		 PMID:28492532 NCBI chr12:20,062,831...20,063,984
Ensembl chr12:20,062,826...20,063,980 		JBrowse link
mitochondrial complex IV deficiency nuclear type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX8A cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:8,101,609...8,103,313
Ensembl chr 2:8,101,613...8,103,285 		JBrowse link
mitochondrial complex IV deficiency nuclear type 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX4I1 cytochrome c oxidase subunit 4I1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31290619 NCBI chr 6:3,131,017...3,137,619
Ensembl chr 6:3,131,019...3,137,530 		JBrowse link
mitochondrial complex IV deficiency nuclear type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G APOPT1 apoptogenic 1, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 OMIM
ClinVar		 PMID:25175347 PMID:25741868 PMID:28492532 PMID:29577824 PMID:30724636
G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G CKB creatine kinase B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G EIF5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G EXOC3L4 exocyst complex component 3 like 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G MARK3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G TNFAIP2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G TRMT61A tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
mitochondrial complex IV deficiency nuclear type 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX6A2 cytochrome c oxidase subunit 6A2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:25741868 PMID:31155743 NCBI chr 3:17,108,623...17,135,108
Ensembl chr 3:17,133,476...17,135,104 		JBrowse link
mitochondrial complex IV deficiency nuclear type 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 ClinVar PMID:25741868 PMID:28386624 NCBI chr17:26,484,957...26,521,532
Ensembl chr17:26,485,157...26,521,525 		JBrowse link
G PET117 PET117 homolog ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 OMIM
ClinVar		 PMID:25741868 PMID:28386624 NCBI chr17:26,479,411...26,485,552
Ensembl chr17:26,480,898...26,485,325 		JBrowse link
mitochondrial complex IV deficiency nuclear type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:56,751,142...56,758,956 JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
G LOC100524554 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:55,677,042...55,687,828
Ensembl chr 3:55,677,073...55,699,542 		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 Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
mitochondrial complex IV deficiency nuclear type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX5A cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 OMIM
ClinVar		 PMID:28247525 PMID:35246835 NCBI chr 7:58,622,969...58,644,024
Ensembl chr 7:58,622,964...58,644,021 		JBrowse link
mitochondrial complex IV deficiency nuclear type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA4 NDUFA4 mitochondrial complex associated ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 OMIM
ClinVar		 PMID:25741868 NCBI chr 9:80,637,005...80,644,067
Ensembl chr 9:80,636,929...80,644,315 		JBrowse link
mitochondrial complex IV deficiency nuclear type 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX16 cytochrome c oxidase assembly factor COX16 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 OMIM
ClinVar		 PMID:33169484 NCBI chr 7:93,861,138...93,882,595
Ensembl chr 7:93,861,141...93,882,600 		JBrowse link
mitochondrial complex IV deficiency nuclear type 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX11 cytochrome c oxidase copper chaperone COX11 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 OMIM
ClinVar		 PMID:36030551 PMID:38068960 NCBI chr12:31,268,397...31,277,850
Ensembl chr12:31,267,520...31,277,429 		JBrowse link
mitochondrial complex IV deficiency nuclear type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 OMIM
ClinVar		 PMID:10767350 PMID:12928484 PMID:15455402 PMID:22669974 PMID:23665194 More... NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,817...58,109,185 		JBrowse link
mitochondrial complex IV deficiency nuclear type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 OMIM
ClinVar		 PMID:11013136 PMID:11118289 PMID:16520371 PMID:17182746 PMID:19295170 More... NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		JBrowse link
mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
mitochondrial complex IV deficiency nuclear type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX6B COX6B protein ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:45,091,829...45,102,785
Ensembl chr 6:45,091,895...45,102,669 		JBrowse link
mitochondrial complex IV deficiency nuclear type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TACO1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 OMIM
ClinVar		 PMID:16199547 PMID:19503089 PMID:20727754 PMID:25044680 PMID:25741868 More... NCBI chr12:15,308,309...15,312,906
Ensembl chr12:15,307,520...15,312,723 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100524554 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chr 3:55,677,042...55,687,828
Ensembl chr 3:55,677,073...55,699,542 		JBrowse link
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: ECHS1-related condition | ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25125611 PMID:25393721 PMID:25741868 More... NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994 		JBrowse link
Subacute Necrotizing Encephalopathy of Leigh, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5PO ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35621276 NCBI chr13:197,509,331...197,519,530
Ensembl chr13:197,509,331...197,519,588 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 PMID:19162478 More... NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:23665194 PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,817...58,109,185 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25130867 PMID:25741868 PMID:28492532 NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:96,474,510...96,590,706
Ensembl chr 3:96,474,549...96,595,143 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10960495 PMID:24667782 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:1550131 PMID:1674640 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564 		JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897 		JBrowse link
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35141356 NCBI chr 5:88,292,760...88,317,111 JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:25326635 PMID:25741868 More... NCBI chr16:39,770,398...39,950,786
Ensembl chr16:39,770,466...39,950,785 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:25741916 More... NCBI chr 4:41,619,480...41,655,682
Ensembl chr 4:41,621,174...41,655,792 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 NCBI chr16:32,874,418...32,985,638
Ensembl chr16:32,874,450...32,987,828 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chr 2:77,080,311...77,087,141 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 More... NCBI chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:17298551 More... NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:2933018 PMID:10443880 PMID:22488715 PMID:24027061 PMID:24462369 More... NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        mitochondrial metabolism disease 798
          cytochrome-c oxidase deficiency disease 219
            COX deficiency, benign infantile mitochondrial myopathy + 33
            COX deficiency, infantile mitochondrial myopathy + 5
            Leigh disease + 186
            mitochondrial complex IV deficiency nuclear type 23 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          inherited metabolic disorder 5435
            mitochondrial metabolism disease 798
              cytochrome-c oxidase deficiency disease 219
                COX deficiency, benign infantile mitochondrial myopathy + 33
                COX deficiency, infantile mitochondrial myopathy + 5
                Leigh disease + 186
                mitochondrial complex IV deficiency nuclear type 23 1
paths to the root