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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 Coa3 cytochrome C oxidase assembly factor 3 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25604084 NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178 		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 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISS
ISO		 OMIM:220110
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		 MouseDO
ClinVar		 PMID:9536098 PMID:12928484 PMID:17576681 PMID:23814038 PMID:25741868 More... NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		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 chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		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 chr14:17,864,581...17,877,483
Ensembl chr14:17,865,857...17,877,480 		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 chr13:90,065,900...90,075,386 JBrowse link
G Cox6b1 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 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001 		JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25741868 PMID:26685157 NCBI chr 1:204,402,118...204,404,439 JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr 1:242,622,281...242,637,048
Ensembl chr 1:242,622,276...242,637,047 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447 		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 chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO RGD PMID:12529507 RGD:1600676 NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:28492532 NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812 		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 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:8630495 PMID:9634511 PMID:11063732 PMID:12414820 PMID:25741868 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 PMID:28518168 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISS
ISO		 OMIM:220110
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		 MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		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:32313153 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease		 CTD
ClinVar		 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 More... NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		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 1:48,525,131...48,633,798
Ensembl chr 1:48,527,323...48,633,345 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665 		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 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881 		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 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505 		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 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259 		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 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		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 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		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 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358 		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 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709 		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 1:47,837,169...47,841,987
Ensembl chr 1:47,836,561...47,841,987 		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 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		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 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674 		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 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		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 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232 		JBrowse link
G Serac1 serine active site containing 1 ISO
ISS		 OMIM:614739
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727 		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 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678 		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 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268 		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 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612 		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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460 		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 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792 		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 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839 		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 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295 		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 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688 		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 1:47,665,965...47,691,067
Ensembl chr 1:47,665,965...47,691,065 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 More... NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		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 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		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 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465 		JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:35621276 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649 		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 chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		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:23814038 PMID:25741868 PMID:28492532 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar
RGD		 PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 More... RGD:1598467 NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:242,622,281...242,637,048
Ensembl chr 1:242,622,276...242,637,047 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		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 chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leigh syndrome		 CTD
ClinVar		 PMID:25125611 PMID:25393721 PMID:25741868 PMID:26099313 PMID:28492532 More... NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		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 chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:31944455 NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174 		JBrowse link
G Fbxl4 F-box and leucine-rich repeat protein 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 More... NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443 		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 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151 		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 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		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 chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,826,131...11,829,745 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725 		JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180 		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 chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		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 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO Leigh syndrome French Canadian variant
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:17050673 PMID:12529507 RGD:1600674, RGD:1600676 NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836 		JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 PMID:25741868 PMID:28777931 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406 		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:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1757091 PMID:7633428 PMID:9243242 PMID:11062027 PMID:14697245 More... NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:11799391 PMID:12612282 PMID:17637808 PMID:18337306 PMID:19398658 More... NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:7496173 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 More... NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar 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:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1900003 PMID:11479733 PMID:11820805 PMID:12406974 PMID:15286228 More... NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA:mutation
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar
RGD		 PMID:6343397 PMID:11456298 PMID:12227465 PMID:14684687 PMID:14705112 More... RGD:5507824 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1323207 PMID:1469456 PMID:3395302 PMID:8213827 PMID:8644732 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:19394449 PMID:20643099 PMID:29444077 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutation: exon:m.13513 G>A (D393N)(human)
ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar
RGD		 PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:9299505 More... RGD:5491185 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14487T>C (p.M63V) (human)
ClinVar Annotator: match by term: Leigh syndrome		 ClinVar
RGD		 PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 More... RGD:6482231 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		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 chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:35141356 NCBI chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO 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 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316 		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 PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477 		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:25741868 PMID:26741492 PMID:28492532 More... NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951 		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 chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 CTD
ClinVar		 PMID:9536098 PMID:14729820 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO
ISS		 OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:c.426delA (human)
DNA:transition:intron:IVS1-1G>A (human)		 MouseDO
ClinVar
CTD
RGD		 PMID:9463323 PMID:10944442 PMID:11112787 PMID:11181577 PMID:12616398 More... RGD:6484662, RGD:12914767, RGD:12914766, RGD:6484698, RGD:6484669 NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 More... NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269 		JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430 		JBrowse link
G Parl presenilin associated, rhomboid-like ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 1:241,523,278...241,549,083
Ensembl chr 1:241,523,377...241,548,761 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996 		JBrowse link
G Rnu6atac RNA, U6atac small nuclear ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946 		JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		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 chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO DNA:missense mutation:cds:p.R554W (human)
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar
RGD		 PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 More... RGD:724604 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISS OMIM:256000 MouseDO NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO Necrotising encephalopathy, subacute, of Leigh OMIA PMID:8844603 PMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 More... NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO
ISS		 ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 More... RGD:1599193 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr11:62,228,990...62,259,389
Ensembl chr11:62,229,058...62,254,699 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671 		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 Mypn myopalladin ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:22892539 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27532257 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		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:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:9299505 PMID:10589546 PMID:11938446 PMID:12509858 PMID:12624137 More... NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:7654063 PMID:8016139 PMID:8622678 PMID:10894222 PMID:12205655 More... NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:12172394 PMID:17357124 PMID:17567889 PMID:17666888 PMID:19081147 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289 		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.9185T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:transversion: :m.8993T>G (human)
DNA:point mutation: :m.9176T>C (human)		 CTD
RGD		 PMID:27129022 PMID:18461509 PMID:14598233 PMID:15709156 RGD:5490262, RGD:5490291, RGD:5490270 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:p.E59K, p.R159Q (human) RGD PMID:20301352 RGD:5148009 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
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 chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407 		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 chr 9:39,651,459...39,664,870 JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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 chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		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 ClinVar
OMIM		 PMID:21457908 NCBI chr 9:39,651,459...39,664,870 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 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081 		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:25741868 PMID:28492532 PMID:32313153 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		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 chr13:90,065,900...90,075,386 JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001 		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 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540 		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 chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		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:32313153 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO OMIM NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		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 NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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 chr 7:130,852,226...130,854,316 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 chr13:90,065,900...90,075,386 JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 More... NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540 		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 chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		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 Coa3 cytochrome C oxidase assembly factor 3 ISO OMIM NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178 		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 8A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:204,402,118...204,404,439 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 chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921 		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 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		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 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		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 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		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 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081 		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 6:130,589,162...130,597,656
Ensembl chr 6:130,589,143...130,597,656 		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 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683 		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 6:130,442,388...130,447,229
Ensembl chr 6:130,442,388...130,447,229 		JBrowse link
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 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647 		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 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153 		JBrowse link
G Snora28l1 small nucleolar RNA, H/ACA box 28 like 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,591,965...130,592,090
Ensembl chr 6:130,591,965...130,592,090 		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 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914 		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 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		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 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243 		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 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274 		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 chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 ClinVar
OMIM		 PMID:28247525 NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa4 Ndufa4, mitochondrial complex associated ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 OMIM
ClinVar		 PMID:25741868 NCBI chr 4:40,002,216...40,009,384
Ensembl chr 4:40,002,216...40,023,920 		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 6:101,162,231...101,181,277
Ensembl chr 6:101,019,680...101,181,246 		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 ClinVar
OMIM		 PMID:36030551 NCBI chr10:75,458,735...75,465,322
Ensembl chr10:75,458,749...75,465,322 		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:25741868 PMID:28492532 More... NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		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 chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		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 Cox6b1 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 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001 		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:19503089 PMID:20727754 PMID:25044680 PMID:25741868 PMID:28492532 NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042 		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: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25125611 PMID:25393721 PMID:25741868 More... NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		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 chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592 		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:19162478 PMID:19389488 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		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:25741868 PMID:28492532 NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		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 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859 		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 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		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 chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		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:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:32313153 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		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:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		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:11456298 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 More... NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		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 chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35141356 NCBI chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315 		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 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316 		JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477 		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:25741868 PMID:26741492 PMID:28492532 More... NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951 		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 chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812 PMID:25741868 PMID:28492532 NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466 		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 chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		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 chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    Nutritional and Metabolic Diseases 8114
      disease of metabolism 8114
        mitochondrial metabolism disease 806
          cytochrome-c oxidase deficiency disease 219
            COX deficiency, benign infantile mitochondrial myopathy 0
            COX deficiency, infantile mitochondrial myopathy + 5
            Leigh disease + 185
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 12
            Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 11 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 12 2
            Mitochondrial Complex IV Deficiency, Nuclear Type 14 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 15 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 16 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 17 14
            Mitochondrial Complex IV Deficiency, Nuclear Type 18 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 19 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 21 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 22 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 23 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 4 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 7 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 8 1
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          inherited metabolic disorder 6169
            mitochondrial metabolism disease 806
              cytochrome-c oxidase deficiency disease 219
                COX deficiency, benign infantile mitochondrial myopathy 0
                COX deficiency, infantile mitochondrial myopathy + 5
                Leigh disease + 185
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 12
                Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 11 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 12 2
                Mitochondrial Complex IV Deficiency, Nuclear Type 14 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 15 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 16 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 17 14
                Mitochondrial Complex IV Deficiency, Nuclear Type 18 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 19 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 21 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 22 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 23 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 4 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 7 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 8 1
paths to the root