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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 CCDC56 coiled-coil domain containing 56 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25604084 NCBI chr 9:20,223,096...20,224,178
Ensembl chr 9:20,223,096...20,224,178 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 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 NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466 		JBrowse link
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 chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		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 chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		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 chr13:61,875,507...61,888,068
Ensembl chr13:61,877,194...61,888,387 		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 chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862 		JBrowse link
G COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25741868 PMID:26685157 NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528 		JBrowse link
G CUTC cutC copper transporter ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr28:12,624,242...12,651,179
Ensembl chr28:12,624,323...12,651,153 		JBrowse link
G ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr28:12,565,173...12,601,152
Ensembl chr28:12,564,727...12,600,240 		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 chr37:15,287,446...15,303,005
Ensembl chr37:15,287,672...15,302,999 		JBrowse link
G LOC611528 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr20:52,406,154...52,412,552 JBrowse link
G LOC612644 cytochrome c oxidase subunit 6B1 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 1:116,960,851...116,969,415 JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:28492532 NCBI chr37:29,681,751...29,689,489
Ensembl chr37:29,681,773...29,689,489 		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:5,349...6,893
Ensembl chr MT:5,349...6,893 		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:7,034...7,717
Ensembl chr MT:7,034...7,717 		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:8,644...9,427
Ensembl chr MT:8,644...9,427 		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 chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		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 chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661 		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 chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		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 chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease
ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease		 ClinVar PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 More... NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148 		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 chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883 		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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		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 1:49,709,437...49,837,848
Ensembl chr 1:49,709,741...49,837,091 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		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 1:48,058,804...48,066,389
Ensembl chr 1:48,058,804...48,066,609 		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 1:48,160,206...48,210,036
Ensembl chr 1:48,160,206...48,210,036 		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 1:48,501,657...48,602,962
Ensembl chr 1:48,501,355...48,602,336 		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 1:47,669,196...47,681,370
Ensembl chr 1:47,669,248...47,681,368 		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 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277 		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 1:49,590,615...49,702,289
Ensembl chr 1:49,548,274...49,702,289 		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 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244 		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 1:49,038,814...49,043,667
Ensembl chr 1:49,038,871...49,043,501 		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 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260 		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 1:49,045,153...49,063,008
Ensembl chr 1:49,044,979...49,062,802 		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 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		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 1:48,329,171...48,349,924
Ensembl chr 1:48,329,211...48,349,088 		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 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494 		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 1:49,268,978...49,296,522 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 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435 		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 1:49,407,949...49,496,627
Ensembl chr 1:49,407,966...49,496,620 		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 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		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 1:48,066,449...48,159,980
Ensembl chr 1:48,067,612...48,159,936 		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 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188 		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 1:49,029,260...49,038,023
Ensembl chr 1:49,029,282...49,038,020 		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 1:47,969,247...48,058,207
Ensembl chr 1:47,983,174...48,055,111 		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 1:47,727,642...47,952,818
Ensembl chr 1:47,791,993...47,951,710 		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 1:48,976,523...49,004,536
Ensembl chr 1:48,976,499...49,003,961 		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 chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		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 chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		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 chr10:46,325,312...46,438,376
Ensembl chr10:46,327,223...46,438,342 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148 		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 NCBI chr 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857 		JBrowse link
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 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479 		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 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,738,344...48,744,604 JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,470,688...51,598,787
Ensembl chr 9:51,470,756...51,598,786 		JBrowse link
G ATP5PO ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:35621276 NCBI chr31:28,472,106...28,481,759 JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093 		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 chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,672,332...48,674,190
Ensembl chr 9:48,672,333...48,673,854 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,868,218...49,878,254 JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,768,012...48,775,191 JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,337,205...51,345,284
Ensembl chr 9:51,337,187...51,362,422 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,721,893...51,852,212
Ensembl chr 9:51,721,839...51,852,453 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,634,061...48,637,083
Ensembl chr 9:48,634,878...48,637,015 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		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 chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		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 chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G CUTC cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr28:12,624,242...12,651,179
Ensembl chr28:12,624,323...12,651,153 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,631,608...51,700,747
Ensembl chr 9:51,629,757...51,699,301 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,836,323...48,844,827
Ensembl chr 9:48,837,035...48,845,482 		JBrowse link
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 chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,120,802...49,122,789
Ensembl chr 9:49,120,818...49,122,804 		JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,554,062...48,557,752
Ensembl chr 9:48,554,077...48,557,746 		JBrowse link
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 chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,722,918...48,726,358
Ensembl chr 9:48,722,658...48,731,723 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,878,075...48,890,002
Ensembl chr 9:48,878,075...48,895,541 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28777931 NCBI chr 6:39,127,433...39,129,487 JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452 		JBrowse link
G ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr28:12,565,173...12,601,152
Ensembl chr28:12,564,727...12,600,240 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,083,368...49,089,608
Ensembl chr 9:49,083,499...49,089,023 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,960,093...49,988,263
Ensembl chr 9:49,961,706...49,962,807 		JBrowse link
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:31944455 NCBI chr37:15,287,446...15,303,005
Ensembl chr37:15,287,672...15,302,999 		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 chr12:57,139,183...57,211,157
Ensembl chr12:57,139,491...57,211,137 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,674,299...48,678,846
Ensembl chr 9:48,673,456...48,679,128 		JBrowse link
G FCN2 ficolin 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,868,942...50,876,001
Ensembl chr 9:50,868,973...50,875,792 		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 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,604,879...48,609,292
Ensembl chr 9:48,606,435...48,609,303 		JBrowse link
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 chr20:57,440,698...57,442,588 JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,274,811...51,284,131
Ensembl chr 9:51,274,686...51,284,122 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,638,849...49,649,980
Ensembl chr 9:49,639,072...49,649,399 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,124,828...49,152,079
Ensembl chr 9:49,118,627...49,152,208 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,602,025...51,630,139
Ensembl chr 9:51,606,235...51,630,637 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,347,273...51,362,621
Ensembl chr 9:51,337,187...51,362,422 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		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 chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,806,874...48,810,266 JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,663,181...48,669,264
Ensembl chr 9:48,665,943...48,668,859 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,784,995...48,789,272
Ensembl chr 9:48,769,526...48,794,188 		JBrowse link
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,800,699...48,805,946 JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,789,948...48,796,002
Ensembl chr 9:48,769,526...48,794,188 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,632,813...49,636,854
Ensembl chr 9:49,632,799...49,637,517 		JBrowse link
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,643,845...48,647,187 JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G LOC119873506 U6atac minor spliceosomal RNA ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,533,962...48,545,514
Ensembl chr 9:48,533,962...48,545,344 		JBrowse link
G LOC486151 thiamine transporter 2 IAGP Necrotising encephalopathy, subacute, of Leigh OMIA PMID:8844603 PMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 More... NCBI chr25:40,411,489...40,442,183
Ensembl chr25:40,412,427...40,438,042 		JBrowse link
G LOC491263 beta-lactoglobulin-1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,663,646...49,667,034 JBrowse link
G LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,528,738...48,532,888 JBrowse link
G LOXL3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:46,325,312...46,438,376
Ensembl chr10:46,327,223...46,438,342 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,726,392...48,736,173
Ensembl chr 9:48,727,523...48,734,820 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,777,374...49,783,501 JBrowse link
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:8602753 PMID:25741868 PMID:37133451 NCBI chr31:21,089,747...21,110,975
Ensembl chr31:21,084,428...21,110,946 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,211,701...51,214,465
Ensembl chr 9:51,211,627...51,214,475 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 PMID:25741868 PMID:28777931 NCBI chr 6:39,130,597...39,131,643
Ensembl chr 6:39,130,561...39,131,648 		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:7,964...8,644
Ensembl chr MT:7,964...8,644 		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: Subacute necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:1757091 PMID:2137962 More... NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		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:7,034...7,717
Ensembl chr MT:7,034...7,717 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III 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:2137962 PMID:7496173 More... NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		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 Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 More... NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		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:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core 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:3,914...4,955
Ensembl chr MT:3,914...4,957 		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:9,496...9,841
Ensembl chr MT:9,496...9,842 		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:10,201...11,578
Ensembl chr MT:10,201...11,578 		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: 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:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 More... NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		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:13,582...14,109
Ensembl chr MT:13,582...14,109 		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 chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,323,613...49,393,017
Ensembl chr 9:49,363,280...49,389,508 		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:9,911...10,207
Ensembl chr MT:9,911...10,207 		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 chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901 		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 chr15:34,971,944...34,996,458
Ensembl chr15:34,954,364...34,996,409 		JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr20:43,721,568...43,730,607
Ensembl chr20:43,721,640...43,730,295 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:40,176,090...40,217,293
Ensembl chr27:40,167,293...40,217,190 		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 chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696 		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 chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176 		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 chr29:39,668,089...39,692,479
Ensembl chr29:39,668,089...39,692,470 		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 chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279 		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 chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921 		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 chr 4:61,613,580...61,727,219
Ensembl chr 4:61,613,589...61,727,205 		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 chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		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 chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979 		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 chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,596,398...48,601,327
Ensembl chr 9:48,596,398...48,611,437 		JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,707,505...49,709,999
Ensembl chr 9:49,706,531...49,710,097 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,972,035...50,996,770
Ensembl chr 9:50,979,146...50,996,602 		JBrowse link
G PARL presenilin associated rhomboid like ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545 		JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,637,735...48,639,289
Ensembl chr 9:48,637,731...48,639,239 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,207,491...51,209,955
Ensembl chr 9:51,207,493...51,210,257 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,196,524...51,204,311
Ensembl chr 9:51,199,252...51,202,800 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814 		JBrowse link
G PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr28:11,517,812...11,545,514
Ensembl chr28:11,517,860...11,545,337 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,213,295...49,245,164
Ensembl chr 9:49,213,295...49,245,176 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,746,363...48,767,529
Ensembl chr 9:48,594,845...48,770,844 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,287,252...51,329,997 JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,783,635...49,786,328
Ensembl chr 9:49,783,635...49,786,328 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,571,045...48,578,517
Ensembl chr 9:48,570,891...48,594,452 		JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553 		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 chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661 		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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO OMIM:256000 MouseDO NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,878,325...49,885,549
Ensembl chr 9:49,878,634...49,885,696 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,090,615...49,110,763
Ensembl chr 9:49,091,636...49,110,767 		JBrowse link
G SOD2 superoxide dismutase 2 ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,593,740...49,598,279
Ensembl chr 9:49,593,703...49,599,113 		JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,460,359...51,470,612
Ensembl chr 9:51,460,623...51,468,902 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,807,272...49,827,611
Ensembl chr 9:49,807,250...49,827,567 		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 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,790,187...49,794,102
Ensembl chr 9:49,790,186...49,793,623 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,793,971...49,806,226
Ensembl chr 9:49,795,890...49,799,319 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,769,338...49,774,136 JBrowse link
G TACO1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883 		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 chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr33:23,153,988...23,175,412
Ensembl chr33:23,154,225...23,175,083 		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 2:35,797,298...35,803,491
Ensembl chr 2:35,797,464...35,803,199 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,777,694...48,779,518
Ensembl chr 9:48,777,958...48,779,448 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,308,397...49,311,360
Ensembl chr 9:49,308,350...49,311,487 		JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:48,688,071...48,713,936
Ensembl chr 9:48,689,331...48,703,633 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:51,855,565...51,881,000
Ensembl chr 9:51,855,559...51,878,459 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:49,423,924...49,444,589
Ensembl chr 9:49,423,408...49,444,585 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,103,004...50,232,753
Ensembl chr 9:50,094,447...50,230,954 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:50,352,600...50,371,224
Ensembl chr 9:50,352,472...50,371,236 		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 chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		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-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:16738010 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957 		JBrowse link
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:11,778...13,598
Ensembl chr MT:11,778...13,598 		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:13,582...14,109
Ensembl chr MT:13,582...14,109 		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:15,353,081...15,465,862
Ensembl chr  X:15,353,081...15,465,992 		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:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		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 chr18:32,947,883...33,011,845
Ensembl chr18:32,917,858...33,011,819 		JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H2orf15 chromosome 10 C2orf15 homolog ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency OMIM
ClinVar		 PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chr10:43,545,023...43,556,215 JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25022261 PMID:25326637 PMID:25741868 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879 		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 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926 		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 chr10:43,513,240...43,525,543
Ensembl chr10:43,513,277...43,523,883 		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 DNA:point mutation: :m.9176T>C (human)
DNA:point mutation: :m.9185T>C (human)
DNA:transversion: :m.8993T>G (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:14598233 PMID:15709156 PMID:18461509 PMID:27129022 RGD:5490262 RGD:5490270 RGD:5490291 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		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:2,747...3,702
Ensembl chr MT:2,747...3,703 		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 COA8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 PMID:25741868 PMID:28492532 NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466 		JBrowse link
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 chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		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 chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862 		JBrowse link
G LOC611528 protein PET100 homolog, mitochondrial 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 chr20:52,406,154...52,412,552 JBrowse link
G LOC612644 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:116,960,851...116,969,415 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:8,644...9,427
Ensembl chr MT:8,644...9,427 		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 chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		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 chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661 		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 chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		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 chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO OMIM NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148 		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 chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883 		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 COX14 cytochrome c oxidase assembly factor COX14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar		 PMID:22243966 PMID:25741868 PMID:28492532 NCBI chr27:4,609,156...4,614,325
Ensembl chr27:4,609,385...4,609,558 		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 chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862 		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 LOC611528 protein PET100 homolog, mitochondrial 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 chr20:52,406,154...52,412,552 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 chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517 		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 chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456 		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 CCDC56 coiled-coil domain containing 56 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 OMIM
ClinVar		 PMID:28492532 NCBI chr 9:20,223,096...20,224,178
Ensembl chr 9:20,223,096...20,224,178 		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 VIIIA (ubiquitous) ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528 		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 5:66,883,730...66,891,734
Ensembl chr 5:66,883,732...66,891,500 		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 NCBI chr 8:70,800,435...70,807,835 JBrowse link
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 NCBI chr 8:71,318,730...71,324,743
Ensembl chr 8:71,321,625...71,322,992 		JBrowse link
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 NCBI chr 8:70,809,943...70,915,922
Ensembl chr 8:70,811,023...71,033,324 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 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 NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466 		JBrowse link
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 NCBI chr 8:71,102,628...71,111,971
Ensembl chr 8:71,102,690...71,270,399 		JBrowse link
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 NCBI chr 8:70,943,515...70,956,211
Ensembl chr 8:70,946,994...70,955,867 		JBrowse link
G LBHD2 LBH domain containing 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 8:70,935,313...70,939,013 JBrowse link
G LOC100855552 creatine kinase B-type ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 8:71,284,104...71,287,379 JBrowse link
G LOC119873132 small nucleolar RNA SNORA28 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 NCBI chr 8:71,148,263...71,269,717
Ensembl chr 8:71,102,690...71,270,399 		JBrowse link
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 NCBI chr 8:70,586,259...70,637,453
Ensembl chr 8:70,585,567...70,627,158 		JBrowse link
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 NCBI chr 8:70,965,776...70,977,807
Ensembl chr 8:70,967,741...70,976,396 		JBrowse link
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 NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645 		JBrowse link
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 NCBI chr 8:71,294,129...71,300,679
Ensembl chr 8:71,294,303...71,300,687 		JBrowse link
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 6:16,807,094...16,807,763
Ensembl chr 6:16,807,150...16,809,998 		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 chr24:4,933,066...4,968,473
Ensembl chr24:4,933,069...4,968,216 		JBrowse link
G LOC100688040 protein PET117 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 OMIM
ClinVar		 PMID:25741868 PMID:28386624 NCBI chr24:4,968,462...4,971,802
Ensembl chr24:4,933,573...4,971,706 		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 COA5 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347 		JBrowse link
G COA6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		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 chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824 		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 chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247 		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 Va ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 OMIM
ClinVar		 PMID:28247525 PMID:35246835 NCBI chr30:37,955,203...37,968,111
Ensembl chr30:37,905,827...37,968,111 		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 chr14:25,887,204...25,893,746 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 8:44,006,532...44,032,041
Ensembl chr 8:44,006,423...44,032,173
Ensembl chr 8:44,006,423...44,032,173 		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 chr 9:30,073,030...30,079,803
Ensembl chr 9:30,055,171...30,079,833 		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 chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		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 chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661 		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 chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		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 LOC612644 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:116,960,851...116,969,415 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 chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883 		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 COA5 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 chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347 		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 chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167 		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 chr31:28,472,106...28,481,759 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 chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516 		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 chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243 		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 chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		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 chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		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 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314 		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 chr20:57,440,698...57,442,588 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 chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		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 chr10:46,325,312...46,438,376
Ensembl chr10:46,327,223...46,438,342 		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:7,964...8,644
Ensembl chr MT:7,964...8,644 		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:7,803...8,006
Ensembl chr MT:7,803...8,006 		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:5,349...6,893
Ensembl chr MT:5,349...6,893 		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:7,034...7,717
Ensembl chr MT:7,034...7,717 		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:8,644...9,427
Ensembl chr MT:8,644...9,427 		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:14,183...15,322
Ensembl chr MT:14,183...15,322 		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:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core 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:3,914...4,955
Ensembl chr MT:3,914...4,957 		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:9,496...9,841
Ensembl chr MT:9,496...9,842 		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:10,201...11,578
Ensembl chr MT:10,201...11,578 		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:11,778...13,598
Ensembl chr MT:11,778...13,598 		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 chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430 		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:9,911...10,207
Ensembl chr MT:9,911...10,207 		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 chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901 		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 chr15:34,971,944...34,996,458
Ensembl chr15:34,954,364...34,996,409 		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 chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696 		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 chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176 		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 chr29:39,668,089...39,692,479
Ensembl chr29:39,668,089...39,692,470 		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 chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		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 chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 NCBI chr 4:61,613,580...61,727,219
Ensembl chr 4:61,613,589...61,727,205 		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 chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		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 chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979 		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 chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434 		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 chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661 		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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		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 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        mitochondrial metabolism disease 815
          cytochrome-c oxidase deficiency disease 226
            COX deficiency, benign infantile mitochondrial myopathy + 35
            COX deficiency, infantile mitochondrial myopathy + 5
            Leigh disease + 191
            mitochondrial complex IV deficiency nuclear type 23 1
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          inherited metabolic disorder 5525
            mitochondrial metabolism disease 815
              cytochrome-c oxidase deficiency disease 226
                COX deficiency, benign infantile mitochondrial myopathy + 35
                COX deficiency, infantile mitochondrial myopathy + 5
                Leigh disease + 191
                mitochondrial complex IV deficiency nuclear type 23 1
paths to the root