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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:Pyruvate Metabolism, Inborn Errors
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Accession:DOID:9002994 term browser browse the term
Definition:Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
Synonyms:primary_id: MESH:D015323;   RDO:0001760


show annotations for term's descendants           Sort by:
Pyruvate Metabolism, Inborn Errors term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2378353 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,100,840...50,118,886
Ensembl chr 1:50,100,817...50,135,095 		JBrowse link
G Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:51,075,081...51,181,548
Ensembl chr 1:51,075,081...51,180,976 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,292,093...49,299,051
Ensembl chr 1:49,282,243...49,298,951 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,373,033...49,416,573
Ensembl chr 1:49,373,035...49,416,573 		JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,686,856...49,769,263
Ensembl chr 1:49,686,856...49,769,263 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,061,904...49,068,612
Ensembl chr 1:49,061,959...49,070,039 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:50,526,878...50,615,265 		JBrowse link
G Map3k4 mitogen activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,977,870...51,067,117
Ensembl chr 1:50,979,586...51,067,117 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,428,064...50,459,537
Ensembl chr 1:50,425,257...50,500,561 		JBrowse link
G Mrpl18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,384,951...50,389,769
Ensembl chr 1:50,384,367...50,389,763 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320 		JBrowse link
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,390,884...50,409,457
Ensembl chr 1:50,390,918...50,409,457 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:51,210,330...52,430,304 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,506,988...49,565,740
Ensembl chr 1:49,506,830...49,559,257 		JBrowse link
G Serac1 serine active site containing 1 ISO
ISS 		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:614739 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:49,025,845...49,061,853
Ensembl chr 1:49,025,845...49,061,853 		JBrowse link
G Slc22a1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,624,339...50,651,437
Ensembl chr 1:50,624,377...50,651,436 		JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,668,817...50,711,019
Ensembl chr 1:50,668,817...50,711,019 		JBrowse link
G Slc22a3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,783,218...50,872,358
Ensembl chr 1:50,783,218...50,872,353 		JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,300,935...49,372,533
Ensembl chr 1:49,302,182...49,372,531 		JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,575,750...49,584,747
Ensembl chr 1:49,575,750...49,583,838 		JBrowse link
G Tcp1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,376,848...50,384,527
Ensembl chr 1:50,376,848...50,384,527 		JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,235,923...49,290,244
Ensembl chr 1:49,236,025...49,290,616 		JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,082,492...49,218,262
Ensembl chr 1:49,087,886...49,218,250 		JBrowse link
G Wtap WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:50,070,973...50,096,074
Ensembl chr 1:50,070,769...50,096,072 		JBrowse link
congenital nonspherocytic hemolytic anemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar PMID:25741868 NCBI chr 2:176,849,635...176,867,726
Ensembl chr 2:176,849,635...176,868,538 		JBrowse link
G Pklr pyruvate kinase L/R ISO
ISS 		ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
OMIM:266200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 More... RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:176,840,764...176,849,644 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: LRPPRC-related condition | 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 More... NCBI chr 6:15,612,638...15,695,113
Ensembl chr 6:15,612,655...15,695,116 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:30,639,868...30,642,759 JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,849,638...42,232,930
Ensembl chr14:41,911,785...42,232,280 		JBrowse link
G Chrna9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,588,948...42,595,669
Ensembl chr14:42,588,948...42,595,669 		JBrowse link
G Fam114a1 family with sequence similarity 114, member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,629,349...43,699,800
Ensembl chr14:43,629,375...43,699,800 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,253,963...43,304,532
Ensembl chr14:43,253,255...43,304,515 		JBrowse link
G Klhl5 kelch-like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,497,915...43,565,833
Ensembl chr14:43,497,918...43,537,894 		JBrowse link
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: LIAS-related condition OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr14:43,230,369...43,247,469
Ensembl chr14:43,230,375...43,247,423 		JBrowse link
G Limch1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,466,433...41,779,477
Ensembl chr14:41,466,433...41,778,837 		JBrowse link
G N4bp2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,696,415...42,819,535
Ensembl chr14:42,763,601...42,825,039 		JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,233,062...42,289,013
Ensembl chr14:42,233,062...42,288,958 		JBrowse link
G Pds5a PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,905,734...43,004,740
Ensembl chr14:42,905,328...43,004,740 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494 		JBrowse link
G Rbm47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,407,226...42,545,304
Ensembl chr14:42,466,335...42,543,163 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026 		JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,694,860...42,725,690
Ensembl chr14:42,693,413...42,749,967 		JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,247,536...43,250,784
Ensembl chr14:43,247,588...43,250,782
Ensembl chr 1:43,247,588...43,250,782 		JBrowse link
G Smim14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,783,361...42,829,762
Ensembl chr14:43,136,867...43,183,416 		JBrowse link
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,737,761...43,750,389
Ensembl chr14:43,740,379...43,756,243 		JBrowse link
G Tlr10 toll-like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,758,940...43,768,352
Ensembl chr14:43,759,827...43,768,351 		JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,715,809...43,727,019
Ensembl chr14:43,698,751...43,740,462 		JBrowse link
G Tmem156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,568,131...43,606,109
Ensembl chr14:43,577,023...43,606,109 		JBrowse link
G Ube2k ubiquitin-conjugating enzyme E2K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,011,681...43,077,825
Ensembl chr14:43,011,681...43,072,462 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,202,480...43,226,002
Ensembl chr14:43,202,356...43,226,629 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,642,660...28,662,689
Ensembl chr 3:28,642,758...28,662,681 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,560,172...30,604,758 JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,814,924...29,826,569
Ensembl chr 3:29,814,924...29,826,581 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,793,078...28,799,459
Ensembl chr 3:28,774,457...28,800,096 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,426,892...32,542,432
Ensembl chr 3:32,426,421...32,542,431 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:28492532 NCBI chr19:67,848,836...68,007,491
Ensembl chr19:67,848,844...68,007,491 		JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:35621276 NCBI chr11:44,651,171...44,657,483
Ensembl chr11:44,651,173...44,657,520 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,639,283...32,646,605
Ensembl chr 3:32,638,644...32,646,605 		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 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:31,173,332...31,227,749
Ensembl chr 3:31,173,332...31,227,629 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,718,648...28,720,232 JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,733,958...30,750,237
Ensembl chr 3:30,736,637...30,744,764 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,144,318...29,206,382
Ensembl chr 3:29,144,318...29,204,184 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,826,918...28,837,072
Ensembl chr 3:28,826,921...28,835,326 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,281,518...32,289,019
Ensembl chr 3:32,281,518...32,289,019 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,656,410...32,779,261
Ensembl chr 3:32,656,410...32,779,261 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,670,176...28,672,166
Ensembl chr 3:28,670,229...28,675,723 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990 		JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,172,943...10,185,960
Ensembl chr19:10,172,949...10,185,937 		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: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:9536098 PMID:17576681 PMID:23665194 PMID:23814038 PMID:25741868 More... NCBI chr10:49,130,209...49,242,009
Ensembl chr10:49,130,209...49,242,009 		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 1:252,554,811...252,571,471
Ensembl chr 1:252,554,811...252,571,471 		JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 1:242,622,281...242,637,048
Ensembl chr 1:252,571,521...252,597,272 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:30,886,328...30,903,316 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,570,725...32,635,446
Ensembl chr 3:32,571,020...32,636,954 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,852,710...29,862,248
Ensembl chr 3:29,853,973...29,862,255 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		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: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,568,041...29,569,937
Ensembl chr 3:29,568,041...29,569,996 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,563,240...28,567,492
Ensembl chr 3:28,563,240...28,567,492 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leigh syndrome 		CTD
ClinVar		 PMID:25125611 PMID:25393721 PMID:25741868 PMID:26099313 PMID:28492532 More... NCBI chr 1:204,324,679...204,333,506
Ensembl chr 1:204,324,682...204,333,506 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,764,906...28,779,499 JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,802,481...29,814,966
Ensembl chr 3:29,802,690...29,814,951 		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 chr10:14,413,661...14,420,489
Ensembl chr10:14,417,735...14,420,489 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,611,722...28,617,237
Ensembl chr 3:28,611,772...28,618,184 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:252,508,594...252,550,269
Ensembl chr 1:252,508,594...252,550,269 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:29,599,059...29,605,898 		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: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:41,380,901...41,418,294
Ensembl chr 2:41,380,901...41,418,294 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,834,145...30,865,802
Ensembl chr 3:30,834,146...30,864,530 		JBrowse link
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:22833457 PMID:25741868 PMID:28492532 PMID:36531778 NCBI chr17:28,524,737...28,951,818
Ensembl chr17:28,524,738...28,951,591 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:31944455 NCBI chr 9:72,659,961...72,681,986
Ensembl chr 9:72,661,764...72,721,338 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:138,272,928...138,301,291 		JBrowse link
G Fbxl4 F-box and leucine-rich repeat protein 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:23993193 PMID:23993194 PMID:24033266 PMID:25558065 PMID:25741868 More... NCBI chr 5:40,752,513...40,826,154
Ensembl chr 5:40,752,521...40,850,826 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,720,670...28,725,237
Ensembl chr 3:28,720,778...28,725,235 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:31,791,750...31,800,188
Ensembl chr 3:31,791,750...31,800,188 		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: Leigh's necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr 8:41,789,557...41,818,064
Ensembl chr 8:41,808,843...41,817,980 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,635,913...28,640,407
Ensembl chr 3:28,637,107...28,641,388 		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 7:10,099,267...10,102,083
Ensembl chr 7:10,098,571...10,102,083 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,219,370...32,227,737 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:32,338,214...32,350,916 		JBrowse link
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:16199547 PMID:16632485 PMID:17160893 PMID:25741868 PMID:28492532 NCBI chr 2:154,010,601...154,055,523
Ensembl chr 2:154,010,614...154,065,805 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 2:30,184,063...30,222,811
Ensembl chr 2:30,184,115...30,222,806 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,026,023...29,037,010
Ensembl chr 3:29,026,025...29,036,699 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,538,929...29,565,921
Ensembl chr 3:29,526,802...29,565,920 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,552,773...32,570,705
Ensembl chr 3:32,555,628...32,570,689 		JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,291,851...32,312,188
Ensembl chr 3:32,291,859...32,312,164 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:117,114,633...117,117,793 		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 chr13:99,363,035...99,397,068
Ensembl chr13:99,362,696...99,397,068 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,081,071...29,136,902
Ensembl chr 3:29,081,321...29,134,768 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,930,943...29,935,418 JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,888,901...28,892,454
Ensembl chr 3:28,888,860...28,892,453 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,710,557...28,713,537
Ensembl chr 3:28,707,042...28,720,501 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,882,133...28,887,697
Ensembl chr 3:28,882,133...28,887,694 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,866,061...28,869,045
Ensembl chr 3:28,866,061...28,869,045 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,041,710...29,050,677
Ensembl chr 3:29,041,133...29,044,895 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:29,424,620...29,432,637 		JBrowse link
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:47,594,058...47,614,669 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		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 6:15,612,638...15,695,113
Ensembl chr 6:15,612,655...15,695,116 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,780,523...28,789,139
Ensembl chr 3:28,780,523...28,789,139 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,539,778...28,563,155
Ensembl chr 3:28,541,347...28,563,154 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,631,829...30,636,911
Ensembl chr 3:30,631,829...30,636,911 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,813,150...29,813,267 JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 9:47,609,743...47,621,033
Ensembl chr 9:47,609,744...47,621,033 		JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:8602753 PMID:25741868 PMID:37133451 NCBI chr11:37,266,116...37,281,612
Ensembl chr11:37,257,696...37,281,544 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,201,037...32,204,317
Ensembl chr 3:32,198,641...32,204,892 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 PMID:25741868 PMID:28777931 NCBI chr10:14,420,543...14,421,674
Ensembl chr10:14,408,136...14,421,771 		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: 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:7,904...8,584 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:1757091 PMID:2137962 More... NCBI chr MT:7,758...7,961
Ensembl chr MT:7,743...7,946 		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 Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy 		ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy 		ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
Ensembl chr MT:6,991...7,674 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7496173 More... NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 More... NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266 		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: Leigh's necrotizing encephalopathy ClinVar PMID:1417830 PMID:1436530 PMID:1442494 PMID:1539598 PMID:1550128 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy 		ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:1900003 PMID:2137962 More... NCBI chr MT:3,904...4,942
Ensembl chr MT:3,892...4,929 		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 necrotizing encephalopathy 		ClinVar
RGD		 PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:6343397 More... RGD:5507824 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783 		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: Leigh's necrotizing encephalopathy ClinVar PMID:1323207 PMID:1436530 PMID:1469456 PMID:1539598 PMID:1550128 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,145...11,522 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,870...10,166
Ensembl chr MT:9,855...10,151 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutation: exon:m.13513 G>A (D393N)(human)
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's 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 Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy 		ClinVar
RGD		 PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 More... RGD:5491185 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553 		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:7219534 PMID:7654063 More... RGD:6482231 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr 8:74,848,936...74,866,987
Ensembl chr 8:74,848,729...74,867,039 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:30,786,443...30,795,374 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,278,077...29,345,098
Ensembl chr 3:29,281,190...29,344,840 		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: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:100,454,498...100,490,023
Ensembl chr 9:100,437,379...100,489,264 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:35141356 NCBI chr 7:30,658,316...30,685,302
Ensembl chr 7:30,658,322...30,686,300 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25741868 PMID:32722639 NCBI chr16:19,560,526...19,567,500
Ensembl chr 7:32,257,006...32,257,492 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,629,795...28,631,884
Ensembl chr18:28,629,795...28,631,884 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:161,345,400...161,375,025 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy 		ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:21364701 PMID:21924235 More... NCBI chr 2:41,269,141...41,380,895
Ensembl chr 2:41,269,141...41,380,763 		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: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25326635 PMID:25356970 More... NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:147,961,599...147,991,126 		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: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 More... NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:28,945,014...28,969,667 		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: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:72,040,286...72,073,605
Ensembl chr 9:72,040,090...72,073,605 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr13:86,186,867...86,203,914
Ensembl chr13:86,186,870...86,203,608 		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 necrotizing encephalopathy 		CTD
ClinVar		 PMID:9536098 PMID:14729820 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 3:97,332,477...97,339,654
Ensembl chr 3:97,332,477...97,345,323 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO
ISS 		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy
OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:c.426delA (human)
DNA:transition:intron:IVS1-1G>A (human) 		ClinVar
MouseDO
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 2:47,684,420...47,794,914
Ensembl chr 2:47,684,406...47,794,931 		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: Leigh's necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chr 7:10,103,226...10,110,862
Ensembl chr 7:10,103,227...10,110,691 		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: Leigh's necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 More... NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:210,569,824...210,572,971 		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: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:210,729,858...210,734,949 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,618,601...28,624,591 JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,904,024...28,907,391
Ensembl chr 3:28,902,876...28,907,389 		JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,960,375...28,983,394
Ensembl chr 3:28,980,186...28,983,370 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:31,918,512...31,956,261
Ensembl chr 3:31,918,573...31,956,260 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,929,252...28,932,592 JBrowse link
G Parl presenilin associated, rhomboid-like ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr11:94,097,559...94,124,915
Ensembl chr11:94,097,934...94,148,287 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,672,906...28,676,252
Ensembl chr 3:28,672,906...28,674,466 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,791,062...28,792,905 JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,195,024...32,201,111
Ensembl chr 3:32,195,024...32,199,561 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:59,863,271...59,871,465
Ensembl chr 8:59,862,899...59,887,927 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:29,604,232...29,614,935 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,179,686...32,188,069
Ensembl chr 3:32,177,235...32,188,264 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:28,680,044...28,682,978 		JBrowse link
G Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 1:241,523,278...241,549,083
Ensembl chr 1:251,471,849...251,498,008 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,433,091...29,462,739
Ensembl chr 3:29,433,091...29,463,036 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,800,802...28,826,722
Ensembl chr 3:28,800,802...28,826,722 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,237,644...32,278,045
Ensembl chr 3:32,237,786...32,278,045 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,678,729...30,692,376
Ensembl chr 3:30,678,740...30,689,059 		JBrowse link
G Rnu6atac RNA, U6atac small nuclear ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 2:214,235,383...214,235,512
Ensembl chr 2:214,235,383...214,235,512 		JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,637,136...30,639,778
Ensembl chr 3:30,637,059...30,639,791
Ensembl chr18:30,637,059...30,639,791 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:31,388,223...31,474,417 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,583,615...28,590,694
Ensembl chr 3:28,585,416...28,591,389 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,908,621...30,973,409
Ensembl chr 3:30,908,621...30,972,137 		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: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chr10:52,243,664...52,256,250
Ensembl chr10:52,243,648...52,260,861 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO DNA:missense mutation:cds:p.R554W (human)
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's 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
RGD		 PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 More... RGD:724604 NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISS OMIM:256000 MouseDO NCBI chr13:86,077,133...86,098,025
Ensembl chr13:86,077,134...86,098,044 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,627,779...29,662,925
Ensembl chr 3:29,627,779...29,662,319 		JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 1:49,025,845...49,061,853
Ensembl chr 1:49,025,845...49,061,853 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		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 9:91,724,718...91,754,991 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,746,472...30,753,287
Ensembl chr 3:30,745,995...30,753,287 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,061,267...29,065,588
Ensembl chr 3:29,061,267...29,065,588 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,417,350...32,426,776
Ensembl chr 3:32,417,350...32,426,934 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,659,659...30,678,650
Ensembl chr 3:30,659,699...30,678,650 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO
ISS 		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's 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
OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 More... RGD:1599193 NCBI chr 3:30,639,868...30,642,759 JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,642,735...30,648,525
Ensembl chr 3:30,642,729...30,647,198 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,646,435...30,659,641
Ensembl chr 3:30,638,299...30,661,390 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,619,525...30,630,388
Ensembl chr 3:30,619,530...30,630,247 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr10:91,502,395...91,510,299
Ensembl chr10:91,502,460...91,515,678 		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 chr 1:210,556,270...210,568,021
Ensembl chr 1:210,556,270...210,568,033 		JBrowse link
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr11:75,734,554...75,759,026
Ensembl chr11:75,731,895...75,758,707 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,623,269...28,629,864
Ensembl chr18:28,623,269...28,629,864 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,837,665...28,839,623
Ensembl chr 3:28,836,576...28,839,623 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,360,770...29,364,756
Ensembl chr 3:29,360,770...29,364,462 		JBrowse link
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22152682 PMID:25741868 PMID:28492532 More... NCBI chr 4:73,170,125...73,557,683
Ensembl chr 4:73,170,125...73,557,783 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,740,098...28,764,752
Ensembl chr 3:28,740,098...28,764,691 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:32,367,670...32,416,568 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:32,782,544...32,807,202
Ensembl chr 3:32,782,308...32,807,201 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:28,570,854...28,579,766
Ensembl chr 3:28,573,358...28,578,630 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:29,223,582...29,246,216
Ensembl chr 3:29,204,570...29,246,161 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:138,259,311...138,300,807 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:30,982,754...31,152,116
Ensembl chr 3:30,982,754...31,152,116 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:162,113,732...162,339,099 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 3:31,233,048...31,254,730
Ensembl chr 3:31,235,222...31,254,727 		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 Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY ClinVar PMID:21874000 PMID:23684012 PMID:25687217 PMID:25741868 PMID:26556299 More... NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		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:3,892...4,929 		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:7654063 PMID:8016139 PMID:8622678 PMID:9299505 PMID:10589546 More... NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553 		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:13,531...14,049 		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:10486093 PMID:22142326 PMID:23021068 PMID:25741868 PMID:28492532 More... NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		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 chr 9:40,107,938...40,118,268
Ensembl chr 9:47,594,058...47,614,669 		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 chr 9:47,609,743...47,621,033
Ensembl chr 9:47,609,744...47,621,033 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25326637 PMID:25741868 PMID:26633542 PMID:28492532 NCBI chr 7:118,849,586...118,866,190
Ensembl chr 7:118,849,600...118,867,539 		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:7,904...8,584 		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:2,729...3,685 		JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: MPC1-related condition | ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 PMID:28492532 NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064 		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 chr 1:204,324,679...204,333,506
Ensembl chr 1:204,324,682...204,333,506 		JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:32,977,023...32,981,442
Ensembl chr15:32,977,035...32,981,442 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 		OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:32,997,853...33,006,691
Ensembl chr15:32,997,834...33,016,864 		JBrowse link
pyruvate carboxylase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Pyruvate Carboxylase Deficiency Disease ClinVar PMID:21874000 PMID:23684012 PMID:25687217 PMID:25741868 PMID:26556299 More... NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr 1:201,888,569...201,891,861
Ensembl chr 1:211,317,980...211,321,272 		JBrowse link
G Pc pyruvate carboxylase ISO DNA:missense mutations:cds:p.A650T, p.M743I (human)
ClinVar Annotator: match by term: PC-related condition | ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... RGD:737741 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
pyruvate decarboxylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:26968897 NCBI chr10:13,978,975...13,999,646
Ensembl chr10:13,978,990...13,990,506 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency ClinVar PMID:25741868 NCBI chr  X:38,522,143...38,667,746
Ensembl chr  X:38,521,183...38,667,676 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO
IMP 		DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:1293379 PMID:1301207 PMID:1338114 PMID:1779625 PMID:1909778 More... RGD:731230, RGD:13207454, RGD:13207453 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:15138885 PMID:17576681 PMID:25741868 PMID:28492532 More... RGD:1599115 NCBI chr15:19,182,789...19,188,731
Ensembl chr15:19,181,208...19,188,976 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO Pyruvate dehydrogenase deficiency OMIA PMID:516334 PMID:552740 PMID:7361423 PMID:15049576 PMID:17095275 NCBI chr 5:30,245,699...30,252,494
Ensembl chr 5:30,242,704...30,253,960 		JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:38,106,067...38,231,286
Ensembl chr  X:38,106,067...38,231,331 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,065,842...39,137,521
Ensembl chr  X:39,072,840...39,137,448 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,997,518...37,093,363
Ensembl chr  X:36,999,265...37,089,782 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,307,320...39,322,023
Ensembl chr  X:39,307,137...39,322,021 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:38,522,143...38,667,746
Ensembl chr  X:38,521,183...38,667,676 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,181,091...39,296,814
Ensembl chr  X:39,181,091...39,296,695 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,185,067...36,524,711
Ensembl chr  X:36,438,178...36,524,708 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,979,629...38,102,656
Ensembl chr  X:37,979,629...38,102,144 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,803,204...37,960,378
Ensembl chr  X:37,830,055...37,960,375 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,580,406...36,642,943
Ensembl chr  X:36,573,917...36,643,240 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:39,325,926...39,433,678 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:37,771,135...37,800,894 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:36,526,068...36,543,336
Ensembl chr  X:36,526,068...36,544,450 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:37,331,893...37,486,465
Ensembl chr  X:37,334,841...37,439,276 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:38,686,530...39,031,658
Ensembl chr  X:38,686,530...39,031,393 		JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd6 abhydrolase domain containing 6, acylglycerol lipase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,289,967...19,337,500
Ensembl chr15:19,289,969...19,337,193 		JBrowse link
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,090,820...19,122,392
Ensembl chr15:19,090,926...19,122,392 		JBrowse link
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,125,234...2,173,457
Ensembl chr16:2,125,234...2,173,421 		JBrowse link
G Arf4 ARF GTPase 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,903,238...1,920,012
Ensembl chr16:1,903,371...1,920,011 		JBrowse link
G Asb14 ankyrin repeat and SOCS box-containing 14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,102,303...2,131,379
Ensembl chr16:2,102,363...2,130,590 		JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,843,803...1,892,165
Ensembl chr16:1,843,752...1,892,163 		JBrowse link
G Dnah12 dynein, axonemal, heavy chain 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,932,776...2,099,391
Ensembl chr16:1,944,752...2,099,373 		JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,351,683...19,378,536
Ensembl chr15:19,352,493...19,378,531 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,198,589...2,200,694
Ensembl chr16:2,198,589...2,200,694 		JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,235,172...2,489,827
Ensembl chr16:2,235,169...2,301,850 		JBrowse link
G Kctd6 potassium channel tetramerization domain containing 6 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,125,529...19,142,038
Ensembl chr15:19,124,932...19,134,583 		JBrowse link
G Pde12 phosphodiesterase 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,926,807...1,932,383
Ensembl chr16:1,922,131...1,932,611 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:15138885 PMID:16199547 PMID:17576681 PMID:18164639 More... NCBI chr15:19,182,789...19,188,731
Ensembl chr15:19,181,208...19,188,976 		JBrowse link
G Pxk PX domain containing serine/threonine kinase like ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,190,085...19,258,711
Ensembl chr15:19,190,085...19,258,671 		JBrowse link
G Rpp14 ribonuclease P/MRP subunit p14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,268,025...19,278,216
Ensembl chr15:19,266,834...19,282,122 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,673,964...1,791,902
Ensembl chr16:1,673,964...1,791,902 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,778,571...59,803,597
Ensembl chr 8:59,778,575...59,799,168 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,307,090...60,322,167
Ensembl chr 8:60,317,121...60,322,167 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,977,717...59,984,706
Ensembl chr 8:59,976,623...59,990,901 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,004,034...60,009,782
Ensembl chr 8:60,004,034...60,009,667 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:59,904,218...59,978,447 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 More... NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,009,818...60,014,625 JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,284,745...60,306,687
Ensembl chr 8:60,283,904...60,305,377 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,989,640...59,991,215
Ensembl chr 8:59,976,623...59,990,901 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,261,325...60,280,797
Ensembl chr 8:60,263,456...60,281,418 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,306,609...60,306,692 JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,306,091...60,306,167 JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,852,037...59,863,295
Ensembl chr 8:59,852,726...59,863,181 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 8:59,863,271...59,871,465
Ensembl chr 8:59,862,899...59,887,927 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,418,173...60,445,176
Ensembl chr 8:60,436,844...60,445,176 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,484,596...60,493,475
Ensembl chr 8:60,484,596...60,493,821 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:60,081,553...60,125,795 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,767,234...59,774,265
Ensembl chr 8:59,765,185...59,774,265 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:60,121,913...60,221,818 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:59,804,662...59,813,423 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:59,850,728...59,852,962 		JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar PMID:25741868 NCBI chr 3:109,886,919...109,913,295
Ensembl chr 3:109,886,953...109,915,862 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: PDHX-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          carbohydrate metabolic disorder 3440
            Pyruvate Metabolism, Inborn Errors 289
              Hyperglycinemia, Lactic Acidosis, and Seizures 24
              Leigh disease + 199
              congenital nonspherocytic hemolytic anemia 2 2
              mitochondrial pyruvate carrier deficiency 1
              pyruvate carboxylase deficiency disease + 3
              pyruvate decarboxylase deficiency + 67
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              Pyruvate Metabolism, Inborn Errors 289
                Hyperglycinemia, Lactic Acidosis, and Seizures 24
                Leigh disease + 199
                congenital nonspherocytic hemolytic anemia 2 2
                mitochondrial pyruvate carrier deficiency 1
                pyruvate carboxylase deficiency disease + 3
                pyruvate decarboxylase deficiency + 67
paths to the root