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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:Leigh disease
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Accession:DOID:3652 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)
Synonyms:exact_synonym: Infantile Subacute Necrotizing Encephalopathy;   Juvenile Leigh Disease;   Juvenile Subacute Necrotizing Encephalopathy;   LS;   Leigh Syndrome;   Leigh's Disease;   Leighs Disease;   Subacute Necrotizing Encephalomyelitis;   Subacute Necrotizing Encephalomyelitis, Infantile;   Subacute Necrotizing Encephalomyelopathies;   Subacute Necrotizing Encephalomyelopathy;   infantile Leigh disease;   infantile necrotizing encephalomyelopathy;   juvenile subacute necrotizing encephalomyelopathy;   subacute necrotising encephalopathy of Leigh;   subacute necrotizing encephalomyelitides;   subacute necrotizing encephalopathies;   subacute necrotizing encephalopathy
 primary_id: MESH:D007888
 alt_id: OMIA:001097;   OMIM:256000
 xref: GARD:6877;   ICD10CM:G31.82;   NCI:C84814;   ORDO:506
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Leigh disease 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 syndrome ClinVar PMID:25741868 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 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 Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh's disease 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...48,742,835
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 1:242,622,276...242,637,048
Ensembl chr 1:242,622,276...242,637,047 		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 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 NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884 		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 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 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 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 NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443 		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:22200994 PMID:23757202 PMID:24033266 PMID:25678554 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 syndrome ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr 7:9,448,590...9,451,778
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 syndrome ClinVar PMID:25130867 PMID:25741868 PMID:28492532 NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501 		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 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 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		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 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: 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: Leigh's disease | 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
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 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:20818383 PMID:22644603 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 syndrome | ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25326635 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29581464 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: 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:28492532 PMID:33097395 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 ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:c.426delA (human)
DNA:transition:intron:IVS1-1G>A (human)		 ClinVar
CTD
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:11978605 PMID:12468279 PMID:17604671 PMID:20301745 PMID:25741868 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:17576681 More... NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466 		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 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 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 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 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 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 Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10556302 More... RGD:1599193 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 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
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 Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 More... NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727 		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:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:18414213 More... NCBI chr 6:9,859,867...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 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
Leigh Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:1301207 PMID:10679936 PMID:15384102 PMID:15473177 PMID:20002125 More... NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency OMIM
ClinVar		 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 PMID:27247813 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:24256811 PMID:24341803 PMID:25326635 PMID:25741868 PMID:27247813 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 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 OMIM
ClinVar		 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 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 Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy 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's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:25741868 PMID:28492532 NCBI chr10:48,630,993...48,742,835
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:22200994 PMID:23757202 PMID:24033266 PMID:25678554 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...9,451,778
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 chr13:96,831,773...96,865,533
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 6:9,859,867...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:20818383 PMID:25326635 PMID:25741868 PMID:26795593 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:25326635 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29581464 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:25741868 PMID:26741492 PMID:33097395 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: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:11978605 PMID:12468279 PMID:17604671 PMID:20301745 PMID:25741868 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:17576681 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:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 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 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        mitochondrial metabolism disease 451
          Leigh disease 64
            3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
            CoQ-Responsive OXPHOS Deficiency 0
            French Canadian Leigh disease 2
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
            Leigh Syndrome Due To Mitochondrial Complex I Deficiency 3
            Leigh Syndrome due to Mitochondrial Complex II Deficiency 0
            Leigh Syndrome due to Mitochondrial Complex III Deficiency 0
            Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0
            Leigh Syndrome due to Mitochondrial Complex V Deficiency 0
            Leigh Syndrome, X-Linked 1
            Lipoyltransferase 1 Deficiency 2
            MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY 1
            Maternally Inherited Leigh Syndrome 2
            Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
            Subacute Necrotizing Encephalopathy of Leigh, Infantile 31
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          inherited metabolic disorder 4718
            carbohydrate metabolic disorder 2587
              Pyruvate Metabolism, Inborn Errors 87
                Leigh disease 64
                  3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
                  CoQ-Responsive OXPHOS Deficiency 0
                  French Canadian Leigh disease 2
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
                  Leigh Syndrome Due To Mitochondrial Complex I Deficiency 3
                  Leigh Syndrome due to Mitochondrial Complex II Deficiency 0
                  Leigh Syndrome due to Mitochondrial Complex III Deficiency 0
                  Leigh Syndrome due to Mitochondrial Complex IV Deficiency 0
                  Leigh Syndrome due to Mitochondrial Complex V Deficiency 0
                  Leigh Syndrome, X-Linked 1
                  Lipoyltransferase 1 Deficiency 2
                  MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY 1
                  Maternally Inherited Leigh Syndrome 2
                  Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
                  Subacute Necrotizing Encephalopathy of Leigh, Infantile 31
paths to the root