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Leigh disease - Ontology Report - Rat Genome Database

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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 cytochrome-c oxidase deficiency 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: 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;   infantile Leigh disease;   infantile necrotizing encephalomyelopathy;   infantile subacute necrotizing encephalopathy;   juvenile subacute necrotizing encephalomyelopathy;   subacute necrotising encephalopathy of Leigh;   subacute necrotizing encephalomyelitides;   subacute necrotizing encephalomyelopathy;   subacute necrotizing encephalopathies;   subacute necrotizing encephalopathy
 xref: GARD:6877;   ICD10CM:G31.82;   MESH:D007888;   MIM:256000;   MONDO:0009723;   NCI:C84814;   OMIA:001097;   ORDO:506
For additional species annotation, visit the Alliance of Genome Resources.

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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 Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:922,978...941,996
Ensembl chrNW_004936669:926,622...942,167 		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 chrNW_004936570:1,315,192...1,322,719 JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512 		JBrowse link
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,363,991...3,397,099
Ensembl chrNW_004936669:3,363,867...3,397,402 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,185,204...1,198,972
Ensembl chrNW_004936669:1,195,365...1,202,042 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,065,901...1,075,493
Ensembl chrNW_004936669:1,069,266...1,072,187 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,212,155...19,321,601
Ensembl chrNW_004936487:19,209,958...19,319,932 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137 		JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:35621276 NCBI chrNW_004936500:8,444,681...8,454,694
Ensembl chrNW_004936500:8,444,546...8,456,048 		JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,112,479...19,119,677
Ensembl chrNW_004936487:19,111,726...19,119,677 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,993,284...3,023,185
Ensembl chrNW_004936669:2,993,187...3,021,200 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:985,318...988,600
Ensembl chrNW_004936669:985,295...988,726
Ensembl chrNW_004936669:985,295...988,726 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,439,174...3,448,637
Ensembl chrNW_004936669:3,441,018...3,448,669 		JBrowse link
G Camsap1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,785,229...1,831,876
Ensembl chrNW_004936669:1,770,870...1,831,930 		JBrowse link
G Card9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,428,208...1,438,012
Ensembl chrNW_004936669:1,429,594...1,438,005 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,463,219...19,472,029
Ensembl chrNW_004936487:19,463,182...19,469,900 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:18,986,966...19,103,044
Ensembl chrNW_004936487:18,986,966...19,103,044 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:947,743...950,539
Ensembl chrNW_004936669:948,667...950,539 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936636:364,527...385,139
Ensembl chrNW_004936636:362,808...385,668 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,302,014...3,326,233
Ensembl chrNW_004936669:3,301,802...3,320,643 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,123,422...19,179,285
Ensembl chrNW_004936487:19,123,577...19,179,117 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,159,711...1,165,667
Ensembl chrNW_004936669:1,158,819...1,164,194 		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 chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,438,129...1,439,909
Ensembl chrNW_004936669:1,438,227...1,439,814 		JBrowse link
G Dpp7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:868,889...872,982
Ensembl chrNW_004936669:869,067...872,885 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25393721 PMID:25741868 PMID:28492532 PMID:32677908 PMID:33139125 More... NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575 		JBrowse link
G Edf1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,051,137...1,055,168
Ensembl chrNW_004936669:1,051,137...1,055,168 		JBrowse link
G Egfl7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,199,416...1,211,367 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 chrNW_004936694:2,217,352...2,220,556
Ensembl chrNW_004936694:2,217,811...2,220,432 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:901,192...906,765
Ensembl chrNW_004936669:901,104...906,782 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chrNW_004936636:406,389...446,167
Ensembl chrNW_004936636:407,186...446,125 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,396,733...1,403,927 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 chrNW_004936480:7,560,055...7,609,650
Ensembl chrNW_004936480:7,560,023...7,609,648 		JBrowse link
G Fam163b family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,337,490...3,363,077
Ensembl chrNW_004936669:3,360,236...3,361,686 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:31944455 NCBI chrNW_004936631:3,074,719...3,099,233
Ensembl chrNW_004936631:3,074,664...3,102,079 		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 chrNW_004936651:530,296...609,443
Ensembl chrNW_004936651:530,197...609,417 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:988,615...993,053
Ensembl chrNW_004936669:988,963...993,843 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chrNW_004936572:5,943,309...5,950,476
Ensembl chrNW_004936572:5,943,186...5,950,502 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:914,520...920,481
Ensembl chrNW_004936669:919,206...920,341 		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 chrNW_004936588:721,436...724,475
Ensembl chrNW_004936588:721,313...724,524 		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 chrNW_004936487:19,520,232...19,529,199
Ensembl chrNW_004936487:19,519,092...19,529,102 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,945,250...1,952,652
Ensembl chrNW_004936669:1,945,250...1,952,652 		JBrowse link
G Gpsm1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,442,550...1,469,563
Ensembl chrNW_004936669:1,440,902...1,463,944 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:814,330...838,881
Ensembl chrNW_004936669:814,330...839,208 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,183,596...19,202,407 JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,438,537...19,455,712
Ensembl chrNW_004936487:19,440,222...19,458,552 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936556:741,718...746,016
Ensembl chrNW_004936556:741,718...749,090 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25130867 PMID:25741868 PMID:28492532 PMID:33327715 PMID:33972171 NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,834,879...1,867,572
Ensembl chrNW_004936669:1,834,582...1,871,791 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936479:16,177,200...16,245,268
Ensembl chrNW_004936479:16,177,158...16,247,165 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,996,399...2,000,130 JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,147,791...1,150,313
Ensembl chrNW_004936669:1,147,791...1,150,313 		JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,125,407...1,129,016
Ensembl chrNW_004936669:1,125,316...1,130,443 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,143,840...1,146,461
Ensembl chrNW_004936669:1,143,840...1,146,529 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,131,292...1,134,313
Ensembl chrNW_004936669:1,131,292...1,133,597 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,930,222...1,932,053 JBrowse link
G Lcnl1 lipocalin like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:957,801...960,114 JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,561,433...1,573,074
Ensembl chrNW_004936669:1,564,102...1,573,047 		JBrowse link
G LOC101959085 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 More... NCBI chrNW_004936636:385,198...401,090
Ensembl chrNW_004936636:385,018...401,851 		JBrowse link
G LOC101961358 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:9545407 PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 More... NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708 		JBrowse link
G LOC101963615 thiamine transporter 2 ISO Necrotising encephalopathy, subacute, of Leigh OMIA PMID:8844603 PMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 More... NCBI chrNW_004936525:8,323,550...8,339,686
Ensembl chrNW_004936525:8,322,602...8,340,082 		JBrowse link
G LOC101967907 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:23665194 PMID:23814038 PMID:25741868 More... NCBI chrNW_004936724:783,591...905,625
Ensembl chrNW_004936724:783,224...905,710 		JBrowse link
G LOC101970652 translational activator of cytochrome c oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chrNW_004936541:4,260,635...4,268,409
Ensembl chrNW_004936541:4,260,571...4,270,038 		JBrowse link
G LOC101971854 surfeit locus protein 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 Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 More... NCBI chrNW_004936669:3,527,741...3,532,087
Ensembl chrNW_004936669:3,527,761...3,534,586 		JBrowse link
G LOC101974307 protein SCO1 homolog, mitochondrial 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 chrNW_004936595:3,523,789...3,537,933
Ensembl chrNW_004936595:3,523,779...3,538,150 		JBrowse link
G Loxl3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936556:745,798...765,926
Ensembl chrNW_004936556:745,798...765,918 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936508:7,961,079...8,068,228 JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,055,181...1,063,638
Ensembl chrNW_004936669:1,056,583...1,064,320 		JBrowse link
G Man1b1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:855,349...867,763
Ensembl chrNW_004936669:855,340...871,516 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,535,646...3,541,643
Ensembl chrNW_004936669:3,535,640...3,542,338 		JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:8602753 PMID:25741868 PMID:37133451 NCBI chrNW_004936640:2,015,978...2,033,423
Ensembl chrNW_004936640:2,016,079...2,033,252 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,064,046...2,066,136
Ensembl chrNW_004936669:2,064,016...2,066,247 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 PMID:25741868 PMID:28777931 NCBI chrNW_004936694:2,220,492...2,221,716
Ensembl chrNW_004936694:2,220,475...2,221,714 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chrNW_004936471:25,334,544...25,352,520
Ensembl chrNW_004936471:25,335,068...25,352,480 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,404,729...3,413,123
Ensembl chrNW_004936669:3,404,704...3,413,136 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,670,798...1,703,757
Ensembl chrNW_004936669:1,670,423...1,703,781 		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 chrNW_004936745:1,436,257...1,471,785
Ensembl chrNW_004936745:1,436,234...1,471,843 		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 chrNW_004936507:11,254,729...11,256,395 JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:32722639 NCBI chrNW_004936596:1,946,058...1,953,734
Ensembl chrNW_004936596:1,946,111...1,953,698 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936531:9,587,139...9,589,007 JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936606:4,794,701...4,825,696
Ensembl chrNW_004936606:4,794,749...4,825,570 		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 Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:21364701 PMID:21924235 More... NCBI chrNW_004936480:7,385,986...7,559,937
Ensembl chrNW_004936480:7,382,187...7,559,981 		JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25326635 PMID:25356970 More... NCBI chrNW_004936485:5,994,388...6,025,042
Ensembl chrNW_004936485:5,992,668...6,025,467 		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 chrNW_004936544:7,983,093...8,008,442
Ensembl chrNW_004936544:7,982,950...8,011,083 		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 chrNW_004936631:2,503,353...2,538,957
Ensembl chrNW_004936631:2,499,062...2,538,801 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chrNW_004936903:503,633...514,235
Ensembl chrNW_004936903:499,300...514,893 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chrNW_004936562:1,667,780...1,674,670
Ensembl chrNW_004936562:1,664,293...1,674,670 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:9463323 PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 More... NCBI chrNW_004936480:13,829,093...13,932,202
Ensembl chrNW_004936480:13,827,743...13,932,238 		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 chrNW_004936588:715,093...720,035
Ensembl chrNW_004936588:715,162...719,968 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 More... NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730 		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 chrNW_004936599:2,169,434...2,173,090
Ensembl chrNW_004936599:2,167,173...2,173,227 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:908,261...913,964
Ensembl chrNW_004936669:908,461...914,205 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,291,328...2,314,414
Ensembl chrNW_004936669:2,291,228...2,314,148 		JBrowse link
G Parl presenilin associated rhomboid like ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chrNW_004936578:5,945,765...5,992,972
Ensembl chrNW_004936578:5,945,635...5,993,143 		JBrowse link
G Paxx PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:951,256...952,804
Ensembl chrNW_004936669:951,261...952,769 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,065,901...1,067,214
Ensembl chrNW_004936669:1,065,900...1,067,214 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,067,544...2,072,052
Ensembl chrNW_004936669:2,067,612...2,071,788 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,385,010...1,395,715
Ensembl chrNW_004936669:1,386,817...1,395,597 		JBrowse link
G Ppp1r26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,074,225...2,081,872
Ensembl chrNW_004936669:2,075,659...2,079,459 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:961,246...964,584
Ensembl chrNW_004936669:961,034...965,136 		JBrowse link
G Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936636:1,432,673...1,458,240
Ensembl chrNW_004936636:1,432,691...1,458,188 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,542,607...1,561,118
Ensembl chrNW_004936669:1,542,607...1,565,688 		JBrowse link
G Rabl6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,075,556...1,102,404
Ensembl chrNW_004936669:1,075,218...1,102,404 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,475,361...19,501,347
Ensembl chrNW_004936487:19,476,205...19,495,105 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,479,778...3,504,938
Ensembl chrNW_004936669:3,481,294...3,491,572 		JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,532,139...3,534,586
Ensembl chrNW_004936669:3,532,139...3,534,586 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,735,111...2,763,060
Ensembl chrNW_004936669:2,738,448...2,763,070 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:888,911...893,981
Ensembl chrNW_004936669:888,580...893,987 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,244,302...3,297,906
Ensembl chrNW_004936669:3,243,762...3,297,905 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 More... NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO OMIM:256000 MouseDO NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,344,019...1,375,483
Ensembl chrNW_004936669:1,343,879...1,375,508 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,432,206...3,438,849
Ensembl chrNW_004936669:3,432,188...3,442,531 		JBrowse link
G Snapc4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,405,306...1,428,222
Ensembl chrNW_004936669:1,405,275...1,425,248 		JBrowse link
G Sod2 superoxide dismutase 2 ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		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 chrNW_004936669:1,901,892...1,912,184 JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,322,207...19,331,434
Ensembl chrNW_004936487:19,322,201...19,330,245 		JBrowse link
G Stkld1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,492,507...3,511,297
Ensembl chrNW_004936669:3,492,615...3,509,583 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,524,070...3,527,697
Ensembl chrNW_004936669:3,522,845...3,527,644 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,518,616...3,523,808
Ensembl chrNW_004936669:3,518,420...3,523,798 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,543,250...3,548,756
Ensembl chrNW_004936669:3,542,644...3,548,762 		JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206 		JBrowse link
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936536:6,432,802...6,451,485 JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936531:9,579,316...9,587,057
Ensembl chrNW_004936531:9,579,316...9,587,009 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,102,653...1,115,411
Ensembl chrNW_004936669:1,114,321...1,115,474 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,625,459...1,628,801
Ensembl chrNW_004936669:1,626,877...1,627,296 		JBrowse link
G Traf2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,004,891...1,034,913
Ensembl chrNW_004936669:1,003,528...1,029,249 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936487:18,956,364...18,983,850
Ensembl chrNW_004936487:18,956,899...18,983,888 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:878,938...884,469
Ensembl chrNW_004936669:876,803...884,560 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:1,742,065...1,759,119
Ensembl chrNW_004936669:1,741,751...1,759,117 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:3,062,538...3,234,167
Ensembl chrNW_004936669:3,112,499...3,232,212 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chrNW_004936669:2,943,759...2,959,788
Ensembl chrNW_004936669:2,943,656...2,958,409 		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 chrNW_004936489:11,255,871...11,273,848
Ensembl chrNW_004936489:11,255,871...11,283,216 		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 chrNW_004936489:11,982,488...12,078,132
Ensembl chrNW_004936489:11,981,969...12,042,447 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940 		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 chrNW_004936489:10,329,223...10,335,758
Ensembl chrNW_004936489:10,329,223...10,335,782 		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 chrNW_004936489:10,413,374...10,457,771
Ensembl chrNW_004936489:10,412,710...10,458,201 		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 chrNW_004936489:10,760,209...10,820,377
Ensembl chrNW_004936489:10,736,182...10,819,754 		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 chrNW_004936489:9,983,935...9,993,179
Ensembl chrNW_004936489:9,992,156...9,992,938 		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 chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174 		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 chrNW_004936489:11,908,083...11,972,186
Ensembl chrNW_004936489:11,909,922...11,975,715 		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 chrNW_004936489:11,283,601...11,289,125
Ensembl chrNW_004936489:11,283,309...11,289,200 		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 chrNW_004936489:11,775,243...11,808,482
Ensembl chrNW_004936489:11,775,243...11,805,651 		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 chrNW_004936489:11,289,557...11,308,136
Ensembl chrNW_004936489:11,290,008...11,308,118 		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 chrNW_004936489:12,118,538...12,913,664
Ensembl chrNW_004936489:12,120,678...13,327,872 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004936489:10,568,736...10,592,912
Ensembl chrNW_004936489:10,569,541...10,593,100 		JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chrNW_004936489:9,911,484...9,983,826
Ensembl chrNW_004936489:9,918,785...9,983,840 		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 chrNW_004936489:11,534,095...11,556,759
Ensembl chrNW_004936489:11,534,095...11,556,745 		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 chrNW_004936489:11,605,403...11,627,786
Ensembl chrNW_004936489:11,594,480...11,627,786 		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 chrNW_004936489:11,693,755...11,774,380
Ensembl chrNW_004936489:11,693,755...11,772,628 		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 chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		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 chrNW_004936489:10,384,060...10,413,122
Ensembl chrNW_004936489:10,352,904...10,412,918 		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 chrNW_004936489:10,615,324...10,623,720
Ensembl chrNW_004936489:10,615,304...10,624,383 		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 chrNW_004936489:11,273,335...11,282,811 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 chrNW_004936489:10,275,739...10,328,102
Ensembl chrNW_004936489:10,275,924...10,328,071 		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 chrNW_004936489:10,090,759...10,255,634
Ensembl chrNW_004936489:10,092,739...10,252,154 		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 chrNW_004936489:11,222,513...11,249,432
Ensembl chrNW_004936489:11,227,156...11,249,818 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971854 surfeit locus protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chrNW_004936669:3,527,741...3,532,087
Ensembl chrNW_004936669:3,527,761...3,534,586 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: LRPPRC-related condition | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian
ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian		 OMIM
ClinVar		 PMID:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 More... NCBI chrNW_004936508:7,961,079...8,068,228 JBrowse link
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197 		JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 NCBI chrNW_004936844:905,249...958,946
Ensembl chrNW_004936844:905,658...956,879 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:1293379 PMID:3034892 PMID:9671272 PMID:10486093 PMID:20002461 More... NCBI chrNW_004936844:889,720...906,631
Ensembl chrNW_004936844:889,635...909,586 		JBrowse link
G Pdhx pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936533:3,153,461...3,215,891
Ensembl chrNW_004936533:3,154,314...3,215,819 		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: LIPT1-related condition | ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency OMIM
ClinVar		 PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chrNW_004936661:1,640,255...1,645,588
Ensembl chrNW_004936661:1,638,036...1,645,607 		JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: LIPT1-related condition | ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chrNW_004936661:1,619,703...1,632,558
Ensembl chrNW_004936661:1,618,975...1,633,278 		JBrowse link
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: ECHS1-related condition | ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25125611 PMID:25393721 More... NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575 		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 chrNW_004936500:8,444,681...8,454,694
Ensembl chrNW_004936500:8,444,546...8,456,048 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616 		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 chrNW_004936480:7,560,055...7,609,650
Ensembl chrNW_004936480:7,560,023...7,609,648 		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 chrNW_004936572:5,943,309...5,950,476
Ensembl chrNW_004936572:5,943,186...5,950,502 		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 chrNW_004936588:721,436...724,475
Ensembl chrNW_004936588:721,313...724,524 		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 PMID:33327715 PMID:33972171 NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936479:16,177,200...16,245,268
Ensembl chrNW_004936479:16,177,158...16,247,165 		JBrowse link
G LOC101959085 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 More... NCBI chrNW_004936636:385,198...401,090
Ensembl chrNW_004936636:385,018...401,851 		JBrowse link
G LOC101967907 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:23665194 PMID:23814038 PMID:25741868 PMID:28492532 PMID:39152498 NCBI chrNW_004936724:783,591...905,625
Ensembl chrNW_004936724:783,224...905,710 		JBrowse link
G LOC101971854 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:2933018 PMID:10443880 PMID:22488715 PMID:23806086 PMID:24027061 More... NCBI chrNW_004936669:3,527,741...3,532,087
Ensembl chrNW_004936669:3,527,761...3,534,586 		JBrowse link
G LOC101974307 protein SCO1 homolog, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936595:3,523,789...3,537,933
Ensembl chrNW_004936595:3,523,779...3,538,150 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chrNW_004936508:7,961,079...8,068,228 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 chrNW_004936471:25,334,544...25,352,520
Ensembl chrNW_004936471:25,335,068...25,352,480 		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 chrNW_004936745:1,436,257...1,471,785
Ensembl chrNW_004936745:1,436,234...1,471,843 		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 chrNW_004936507:11,254,729...11,256,395 JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:32722639 NCBI chrNW_004936596:1,946,058...1,953,734
Ensembl chrNW_004936596:1,946,111...1,953,698 		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:21364701 PMID:21924235 More... NCBI chrNW_004936480:7,385,986...7,559,937
Ensembl chrNW_004936480:7,382,187...7,559,981 		JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chrNW_004936485:5,994,388...6,025,042
Ensembl chrNW_004936485:5,992,668...6,025,467 		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 chrNW_004936544:7,983,093...8,008,442
Ensembl chrNW_004936544:7,982,950...8,011,083 		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 chrNW_004936631:2,503,353...2,538,957
Ensembl chrNW_004936631:2,499,062...2,538,801 		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 chrNW_004936562:1,667,780...1,674,670
Ensembl chrNW_004936562:1,664,293...1,674,670 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936480:13,829,093...13,932,202
Ensembl chrNW_004936480:13,827,743...13,932,238 		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 chrNW_004936588:715,093...720,035
Ensembl chrNW_004936588:715,162...719,968 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 More... NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730 		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 chrNW_004936599:2,169,434...2,173,090
Ensembl chrNW_004936599:2,167,173...2,173,227 		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 chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        Metabolic Brain Diseases 1419
          Metabolic Brain Diseases, Inborn 1301
            Leigh disease 170
              3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 25
              CoQ-Responsive OXPHOS Deficiency 0
              French Canadian Leigh disease 2
              Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 1
              Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0
              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 3
              Lipoyltransferase 1 Deficiency 2
              Maternally Inherited Leigh Syndrome 0
              Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
              Subacute Necrotizing Encephalopathy of Leigh, Infantile 26
              mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 14638
    Developmental Disease 12850
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          inherited metabolic disorder 5612
            carbohydrate metabolic disorder 2706
              Pyruvate Metabolism, Inborn Errors 256
                Leigh disease 170
                  3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 25
                  CoQ-Responsive OXPHOS Deficiency 0
                  French Canadian Leigh disease 2
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 1
                  Leigh Syndrome Due To Mitochondrial Complex I Deficiency 0
                  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 3
                  Lipoyltransferase 1 Deficiency 2
                  Maternally Inherited Leigh Syndrome 0
                  Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
                  Subacute Necrotizing Encephalopathy of Leigh, Infantile 26
                  mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 1
paths to the root