Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:mitochondrial metabolism disease
go back to main search page
Accession:DOID:700 term browser browse the term
Definition:An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (DO)
Synonyms:exact_synonym: Mitochondrial Disease;   Mitochondrial Disorder;   Mitochondrial Disorders;   Mitochondrial Electron Transport Chain Deficiencies;   Mitochondrial Respiratory Chain Deficiencies;   Oxidative Phosphorylation Deficiencies;   Oxidative Phosphorylation Deficiency;   mitochondrial diseases;   respiratory chain deficiencies;   respiratory chain deficiency
 narrow_synonym: EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC;   MITOCHONDRIAL DISORDER DUE TO A DEFECT IN ASSEMBLY OR MATURATION OF THE RESPIRATORY CHAIN COMPLEXES
 broad_synonym: ABNORMALITY OF THE MITOCHONDRION
 xref: EFO:0000591;   GARD:7048;   MESH:D028361;   MONDO:0004069
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
mitochondrial metabolism disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 NCBI chr19:24,008,602...24,068,346
Ensembl chr19:24,008,667...24,071,356
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:29478781 NCBI chr 6:1,010,210...1,013,360
Ensembl chr 6:1,010,265...1,013,002
JBrowse link
G CADM1 cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr23:52,829,438...52,899,428
Ensembl chr23:52,829,350...52,899,375
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25131622 PMID:25741868 PMID:28492532 PMID:32337771 PMID:32685350 NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538
JBrowse link
G COX20 COX20, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 NCBI chr25:81,861,673...81,869,597
Ensembl chr25:81,862,035...81,869,506
JBrowse link
G DGUOK deoxyguanosine kinase susceptibility ISO mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA RGD PMID:11687800 RGD:1601052 NCBI chr14:33,320,957...33,356,088
Ensembl chr14:33,320,969...33,356,093
JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661
JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr 5:1,682,232...1,685,863
Ensembl chr 5:1,682,249...1,685,260
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: mitochondrial disorder ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818383 NCBI chr 1:117,394,426...117,404,692
Ensembl chr 1:117,394,587...117,404,258
JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:28492532 PMID:28812649 PMID:34732400 NCBI chr 5:1,880,025...1,886,829
Ensembl chr 5:1,879,968...1,883,696
JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:28492532 PMID:29075935 NCBI chr 4:69,065,841...69,114,724
Ensembl chr 4:69,066,293...69,114,508
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO Mitochondrial trifunctional protein deficiency, OMIM:609015; DNA:point_mutations:CDS:compound heterozygote 182G>A amino acid R61H, and 740G>A amino acid R247H RGD PMID:8651282 RGD:1600779 NCBI chr14:81,361,735...81,411,588
Ensembl chr14:81,361,612...81,411,432
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr10:75,711,829...75,852,055
Ensembl chr10:75,715,996...75,828,310
JBrowse link
G LOC103233807 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Abnormality of the mitochondrion ClinVar PMID:25741868 NCBI chr 6:7,116,233...7,118,101
Ensembl chr 6:7,116,314...7,118,030
JBrowse link
G LOC103234417 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO MouseDO NCBI chr 6:24,293,640...24,298,983
Ensembl chr 6:24,293,920...24,299,043
JBrowse link
G LOC103239687 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:12515039 More... NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385
JBrowse link
G LOC103243713 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 ISO ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder ClinVar PMID:25741868 PMID:31866046 NCBI chr16:73,190,114...73,192,088 JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr 5:72,762,428...72,774,204
Ensembl chr 5:72,763,050...72,772,770
JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO DNA:missense mutations, frameshift mutations:multiple (human) RGD PMID:11170888 RGD:2316864 NCBI chr 4:65,944,742...66,013,663
Ensembl chr 4:65,944,840...66,013,663
JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr20:103,591,944...103,630,253
Ensembl chr20:103,591,944...103,629,102
JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr 2:47,028,568...47,050,950
Ensembl chr 2:47,029,329...47,050,948
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:16582910 PMID:16909392 PMID:18261905 PMID:19012992 PMID:20074988 More... NCBI chr14:80,289,285...80,302,838 JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:8602753 PMID:25741868 PMID:37133451 NCBI chr 2:66,666,083...66,902,386
Ensembl chr 2:66,666,728...66,686,353
JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr 5:1,680,898...1,682,159
Ensembl chr 5:1,681,228...1,682,151
JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361
JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder ClinVar PMID:30245030 PMID:30847515 NCBI chr19:24,622,172...24,630,977 JBrowse link
G NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 ISO ClinVar Annotator: match by term: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ClinVar PMID:25741868 PMID:33502047 NCBI chr 6:13,225,005...13,230,650
Ensembl chr 6:13,225,006...13,230,630
JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:32969598 NCBI chr 1:69,275,729...69,285,782
Ensembl chr 1:69,272,890...69,286,276
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 NCBI chr10:91,893,337...91,927,559
Ensembl chr10:91,893,616...91,927,592
JBrowse link
G NOL3 nucleolar protein 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19139834 NCBI chr 5:60,281,492...60,286,865 JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16157314 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder ClinVar PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
JBrowse link
G OXA1L OXA1L mitochondrial inner membrane insertase ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:30201738 NCBI chr29:23,131,273...23,137,470
Ensembl chr29:23,131,453...23,137,245
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Abnormality of the mitochondrion ClinVar PMID:1301207 PMID:7887409 PMID:10679936 PMID:15384102 PMID:15473177 More... NCBI chr  X:17,804,123...17,820,087 JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Abnormality of the mitochondrion | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2504279 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:23022098 PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 More... NCBI chr13:78,865,327...78,912,235
Ensembl chr13:78,865,765...78,912,601
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:9536098 PMID:17576681 PMID:21646632 PMID:23107649 PMID:24741716 More... NCBI chr 8:97,055,111...97,091,980 JBrowse link
G SCO1 SCO1, cytochrome c oxidase assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17182746 NCBI chr16:10,021,480...10,036,920 JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:27693233 PMID:28492532 PMID:32827528 NCBI chr 7:131,102,077...131,106,076 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9917329 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Abnormality of the mitochondrion ClinVar PMID:25741868 NCBI chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460
JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:28492532 PMID:30190335 PMID:38828998 NCBI chr 6:34,089,043...34,098,574 JBrowse link
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:27290639 PMID:27374773 PMID:27374774 PMID:28492532 More... NCBI chr 1:76,869,434...76,876,282
Ensembl chr 1:76,869,431...76,876,342
JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:29290614 NCBI chr16:17,315,466...17,358,863
Ensembl chr16:17,316,048...17,358,580
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder ClinVar PMID:25741868 PMID:27132592 PMID:33886802 PMID:34489609 NCBI chr22:79,307,124...79,311,496
Ensembl chr22:79,307,444...79,308,658
JBrowse link
G TTC19 tetratricopeptide repeat domain 19 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr16:15,632,017...15,662,857 JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder ClinVar PMID:11431692 PMID:12707443 PMID:12872260 PMID:16639411 PMID:17272269 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:28812649 NCBI chr11:32,181,214...32,192,654
Ensembl chr11:32,181,397...32,192,454
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers 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 chr13:87,363,527...87,378,002 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 chr13:88,634,100...88,782,371
Ensembl chr13:88,640,548...88,781,702
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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 chr13:86,210,462...86,218,002
Ensembl chr13:86,210,465...86,217,956
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 chr13:86,342,954...86,399,827
Ensembl chr13:86,344,051...86,370,622
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 chr13:86,720,558...86,868,978
Ensembl chr13:86,792,712...86,868,321
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 Ensembl chr13:85,771,630...85,782,646 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 chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
JBrowse link
G LPA lipoprotein(a) 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 chr13:88,077,041...88,337,256 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 chr13:88,489,835...88,621,504
Ensembl chr13:88,490,200...88,620,992
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 chr13:87,520,860...87,523,523
Ensembl chr13:87,521,947...87,523,098
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 chr13:87,389,210...87,395,134
Ensembl chr13:87,389,702...87,394,866
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 chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644
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 chr13:87,396,297...87,418,368
Ensembl chr13:87,397,636...87,422,594
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 chr13:88,856,056...90,329,379 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 chr13:86,562,453...86,582,483 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 chr13:85,711,101...85,770,010
Ensembl chr13:85,710,061...85,769,961
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 chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073
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 chr13:87,835,077...87,881,410
Ensembl chr13:87,833,430...87,881,081
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 chr13:87,971,305...88,076,468
Ensembl chr13:87,971,392...88,074,946
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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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 chr13:86,242,087...86,342,084
Ensembl chr13:86,242,109...86,341,818
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 chr13:86,620,021...86,630,814
Ensembl chr13:86,620,046...86,630,956
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 chr13:87,377,452...87,388,692
Ensembl chr13:87,377,996...87,388,568
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 chr13:86,102,912...86,206,815 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 chr13:85,881,735...86,088,074
Ensembl chr13:85,883,698...86,085,894
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 chr13:87,328,228...87,357,868 JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
OMIM
ClinVar
RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:15039298 NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089
JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr29:7,756,742...7,769,061
Ensembl chr29:7,757,158...7,765,777
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 OMIM
ClinVar
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:9536098 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM
ClinVar
PMID:8644740 PMID:9207786 PMID:10364542 PMID:10926541 PMID:11756613 More... NCBI chr 7:131,102,077...131,106,076 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM
ClinVar
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 More... NCBI chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 OMIM
ClinVar
PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 More... NCBI chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM
ClinVar
PMID:8130196 PMID:12859174 PMID:17486094 PMID:18504129 PMID:19664747 More... NCBI chr 8:97,055,111...97,091,980 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy OMIM
ClinVar
PMID:23352259 PMID:25741868 PMID:28492532 PMID:31478350 NCBI chr 9:62,926,221...62,985,843
Ensembl chr 9:62,926,674...62,985,842
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
JBrowse link
G LOC103246803 mismatch repair endonuclease PMS2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More... NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | ClinVar Annotator: match by term: RNASEH1-related condition OMIM
ClinVar
PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr14:104,095,771...104,111,051
Ensembl chr14:104,095,795...104,114,987
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | ClinVar Annotator: match by term: TK2-related condition OMIM
ClinVar
PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More... NCBI chr 5:52,202,040...52,272,428
Ensembl chr 5:52,204,605...52,243,017
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGUOK deoxyguanosine kinase ISO ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 OMIM
ClinVar
PMID:9536098 PMID:11983456 PMID:12205643 PMID:14568816 PMID:14623087 More... NCBI chr14:33,320,957...33,356,088
Ensembl chr14:33,320,969...33,356,093
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar
PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 More... NCBI chr16:17,315,466...17,358,863
Ensembl chr16:17,316,048...17,358,580
JBrowse link
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder OMIM
ClinVar
PMID:25741868 PMID:35617047 NCBI chr 1:62,606,112...62,649,979
Ensembl chr 1:62,604,486...62,650,200
JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome OMIM
ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099
JBrowse link
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPS1 carbamoyl-phosphate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Congenital hyperammonemia, type I ClinVar
OMIM
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206
JBrowse link
G LOC103226816 ATP-binding cassette sub-family A member 3 ISO ClinVar Annotator: match by term: Congenital hyperammonemia, type I ClinVar PMID:24871971 PMID:25741868 PMID:28492532 PMID:31130284 NCBI chr 5:2,171,487...2,218,851 JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal OMIM
ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:2647738 More... NCBI chr20:79,710,638...79,728,100
Ensembl chr20:79,706,584...79,727,689
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease ClinVar PMID:25741868 PMID:31673878 NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168
JBrowse link
Childhood Myocerebrohepatopathy Spectrum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum ClinVar PMID:12707443 PMID:16621917 PMID:18487244 PMID:18546365 PMID:19752458 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
DNA:mutations:cds:
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
CTD
RGD
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 More... NCBI chr 8:97,055,111...97,091,980 JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar NCBI chr 7:131,102,077...131,106,076 JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
JBrowse link
G TWNK twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
RGD
ClinVar
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
JBrowse link
coenzyme Q10 deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr12:47,239,094...47,346,528
Ensembl chr12:47,258,798...47,287,102
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 More... NCBI chr 7:31,656,294...31,677,423
Ensembl chr 7:31,656,670...31,677,274
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:18319074 PMID:19440741 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538
JBrowse link
G COQ9 coenzyme Q9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr 5:43,378,467...43,393,037
Ensembl chr 5:43,378,539...43,392,384
JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,322,083...26,379,493
Ensembl chr 9:26,323,478...26,377,415
JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr13:66,405,014...66,704,559
Ensembl chr13:66,405,521...66,704,696
JBrowse link
combined oxidative phosphorylation deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr17:27,855,688...27,869,427
Ensembl chr17:27,855,713...27,870,409
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:25986071 PMID:26257172 More... NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 5:21,248,866...21,282,725
Ensembl chr 5:21,251,224...21,282,966
JBrowse link
G GFM1 G elongation factor mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:21119709 PMID:25741868 PMID:28216230 PMID:28492532 PMID:31683770 NCBI chr15:32,153,650...32,198,393
Ensembl chr15:32,150,607...32,198,396
JBrowse link
G GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 5:21,190,080...21,237,204
Ensembl chr 5:21,193,328...21,237,521
JBrowse link
G MRPS16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 9:58,020,526...58,022,393 JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 ISO OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 MouseDO NCBI chr17:1,650,818...1,688,362
Ensembl chr17:1,651,011...1,688,321
JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr11:118,576,548...118,599,035
Ensembl chr11:118,576,618...118,598,106
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr17:28,637,868...28,649,898 JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:25986071 PMID:26257172 More... NCBI chr  X:105,421,709...105,437,206
Ensembl chr  X:105,424,290...105,437,169
JBrowse link
G TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:25741868 PMID:35321494 NCBI chr22:47,798,325...47,855,262
Ensembl chr22:47,798,290...47,854,946
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr11:53,696,197...53,714,949
Ensembl chr11:53,696,228...53,708,957
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:26,221,203...26,225,080
Ensembl chr 5:26,221,337...26,225,083
JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFM1 G elongation factor mitochondrial 1 ISO ClinVar Annotator: match by term: GFM1-related condition | ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 OMIM
ClinVar
PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 More... NCBI chr15:32,153,650...32,198,393
Ensembl chr15:32,150,607...32,198,396
JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29075935 NCBI chr 4:69,065,841...69,114,724
Ensembl chr 4:69,066,293...69,114,508
JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr10:109,904,050...109,912,043
Ensembl chr10:109,904,076...109,912,341
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361
JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr17:41,537,842...41,550,063
Ensembl chr17:41,534,552...41,549,439
JBrowse link
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF1A1 eukaryotic translation elongation factor 1 alpha 1 ISO ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ClinVar PMID:28492532 NCBI chr17:1,626,701...1,630,445
Ensembl chr17:1,627,901...1,630,150
JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: MTO1-related condition | ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22494076 PMID:22608499 More... NCBI chr17:1,650,818...1,688,362
Ensembl chr17:1,651,011...1,688,321
JBrowse link
combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RMND1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 | ClinVar Annotator: match by term: RMND1-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18835491 PMID:23022098 PMID:23022099 More... NCBI chr13:78,865,327...78,912,235
Ensembl chr13:78,865,765...78,912,601
JBrowse link
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22492562 PMID:23008233 PMID:24706556 More... NCBI chr 5:21,248,866...21,282,725
Ensembl chr 5:21,251,224...21,282,966
JBrowse link
G GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ClinVar PMID:25741868 NCBI chr 5:21,190,080...21,237,204
Ensembl chr 5:21,193,328...21,237,521
JBrowse link
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 OMIM
ClinVar
PMID:9536098 PMID:11080643 PMID:16199547 PMID:17576681 PMID:23084291 More... NCBI chr14:51,211,385...51,267,706
Ensembl chr14:51,211,118...51,267,098
JBrowse link
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13A1 coagulation factor XIII A chain ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:28492532 NCBI chr17:65,885,498...66,040,026
Ensembl chr17:65,885,658...66,040,040
JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22499341 PMID:22833457 More... NCBI chr17:66,356,479...66,921,276
Ensembl chr17:66,543,452...66,898,446
JBrowse link
G LYRM4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:24161539 PMID:25741868 PMID:28492532 PMID:32007496 NCBI chr17:66,921,386...67,077,331
Ensembl chr17:66,921,596...67,076,843
JBrowse link
G NRN1 neuritin 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:28492532 NCBI chr17:66,187,338...66,196,928
Ensembl chr17:66,187,723...66,196,934
JBrowse link
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 | ClinVar Annotator: match by term: MTFMT-related condition OMIM
ClinVar
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr26:18,556,747...18,583,528
Ensembl chr26:18,556,791...18,583,446
JBrowse link
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | ClinVar Annotator: match by term: MRPL44-related condition OMIM
ClinVar
PMID:23315540 PMID:25326637 PMID:25741868 PMID:25797485 PMID:26001801 More... NCBI chr10:109,904,050...109,912,043
Ensembl chr10:109,904,076...109,912,341
JBrowse link
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELAC2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 | ClinVar Annotator: match by term: ELAC2-related condition ClinVar
OMIM
PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:12515253 More... NCBI chr16:12,328,864...12,353,916
Ensembl chr16:12,329,300...12,353,872
JBrowse link
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFXN4 sideroflexin 4 ISO ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | ClinVar Annotator: match by term: SFXN4-related condition OMIM
ClinVar
PMID:16199547 PMID:24119684 PMID:25741868 PMID:28492532 NCBI chr 9:111,932,754...111,955,849
Ensembl chr 9:111,933,083...111,955,833
JBrowse link
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 | ClinVar Annotator: match by term: LYRM4-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr17:66,356,479...66,921,276
Ensembl chr17:66,543,452...66,898,446
JBrowse link
G LYRM4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 | ClinVar Annotator: match by term: LYRM4-related condition OMIM
ClinVar
PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr17:66,921,386...67,077,331
Ensembl chr17:66,921,596...67,076,843
JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 | ClinVar Annotator: match by term: MRPS16-related condition OMIM
ClinVar
PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr 9:58,020,526...58,022,393 JBrowse link
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition OMIM
ClinVar
PMID:12345 PMID:16199547 PMID:24639874 PMID:24827421 PMID:25058219 More... NCBI chr17:41,537,842...41,550,063
Ensembl chr17:41,534,552...41,549,439
JBrowse link
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 | ClinVar Annotator: match by term: TARS2-related condition OMIM
ClinVar
PMID:24827421 PMID:25741868 PMID:28492532 PMID:33153448 PMID:34508595 More...
combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 OMIM
ClinVar
PMID:23596069 PMID:25741868 PMID:28492532 PMID:34954817 NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924
JBrowse link
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTPBP3 GTP binding protein 3, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 | ClinVar Annotator: match by term: GTPBP3-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25434004 PMID:25741868 More... NCBI chr 6:15,844,678...15,847,517 JBrowse link
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22237560 PMID:25385316 PMID:25629079 More... NCBI chr 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361
JBrowse link
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARS2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 | ClinVar Annotator: match by term: MARS2-related condition OMIM
ClinVar
PMID:25741868 PMID:25754315 PMID:28492532 NCBI chr10:83,186,370...83,193,464
Ensembl chr10:83,187,344...83,189,125
JBrowse link
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: TRMT5-related condition OMIM
ClinVar
PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 PMID:29021354 More... NCBI chr24:38,164,262...38,173,917
Ensembl chr24:38,167,915...38,174,140
JBrowse link
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25640679 More... NCBI chr 3:88,871,338...88,929,454
Ensembl chr 3:88,871,460...88,929,436
JBrowse link
G NAXD NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr 3:88,845,564...88,870,176
Ensembl chr 3:88,845,487...88,868,411
JBrowse link
combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A26 solute carrier family 25 member 26 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 | ClinVar Annotator: match by term: SLC25A26-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26522469 PMID:28492532 NCBI chr22:27,233,997...27,401,529
Ensembl chr22:27,233,991...27,400,565
JBrowse link
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TXN2 thioredoxin 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 | ClinVar Annotator: match by term: TXN2-related condition OMIM
ClinVar
PMID:25741868 PMID:26626369 PMID:28492532 NCBI chr19:19,168,693...19,185,898
Ensembl chr19:19,169,286...19,185,735
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVIL advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr11:53,708,969...53,732,219
Ensembl chr11:53,707,566...53,728,894
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr11:53,696,197...53,714,949
Ensembl chr11:53,696,228...53,708,957
JBrowse link
combined oxidative phosphorylation deficiency 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 | ClinVar Annotator: match by term: TRMT10C-related condition OMIM
ClinVar
PMID:25741868 PMID:27132592 PMID:28492532 PMID:33886802 PMID:34489609 NCBI chr22:79,307,124...79,311,496
Ensembl chr22:79,307,444...79,308,658
JBrowse link
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr 3:3,578,057...3,726,783
Ensembl chr 3:3,578,193...3,726,746
JBrowse link
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 | ClinVar Annotator: match by term: MRPS34-related condition ClinVar PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More... NCBI chr 5:1,682,232...1,685,863
Ensembl chr 5:1,682,249...1,685,260
JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 | ClinVar Annotator: match by term: MRPS34-related condition OMIM
ClinVar
PMID:2877793 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 More... NCBI chr 5:1,680,898...1,682,159
Ensembl chr 5:1,681,228...1,682,151
JBrowse link
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QBP complement C1q binding protein ISO ClinVar Annotator: match by term: C1QBP-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28942965 More... NCBI chr16:4,843,202...4,850,639
Ensembl chr16:4,843,438...4,850,600
JBrowse link
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 | ClinVar Annotator: match by term: MRPS7-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr16:46,410,941...46,432,560
Ensembl chr16:46,411,391...46,432,991
JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 | ClinVar Annotator: match by term: MRPS7-related condition OMIM
ClinVar
PMID:9063420 PMID:25556185 PMID:25741868 PMID:28492532 NCBI chr16:46,407,080...46,411,753
Ensembl chr16:46,404,792...46,412,037
JBrowse link
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIT1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency | ClinVar Annotator: match by term: TRIT1-related condition OMIM
ClinVar
PMID:24901367 PMID:25741868 PMID:25954003 PMID:26381753 PMID:27618451 More... NCBI chr20:93,017,385...93,065,601
Ensembl chr20:93,017,428...93,064,904
JBrowse link
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 | ClinVar Annotator: match by term: MRPS2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29576219 NCBI chr12:2,665,725...2,669,478
Ensembl chr12:2,665,620...2,669,407
JBrowse link
combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MICOS13 mitochondrial contact site and cristae organizing system subunit 13 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 | ClinVar Annotator: match by term: MICOS13-related condition | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy OMIM
ClinVar
PMID:25741868 PMID:27485409 PMID:27623147 PMID:28492532 PMID:29618761 NCBI chr 6:5,326,821...5,338,848
Ensembl chr 6:5,335,730...5,338,432
JBrowse link
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 | ClinVar Annotator: match by term: MRPS14-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30358850 NCBI chr25:54,231,605...54,240,724
Ensembl chr25:54,231,643...54,240,472
JBrowse link
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 | ClinVar Annotator: match by term: GFM2-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22700954 PMID:25741868 PMID:26016410 More... NCBI chr 4:69,065,841...69,114,724
Ensembl chr 4:69,066,293...69,114,508
JBrowse link
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 | ClinVar Annotator: match by term: TUFM-related condition OMIM
ClinVar
PMID:17160893 PMID:19524667 PMID:20435138 PMID:25741868 PMID:26741492 More... NCBI chr 5:26,221,203...26,225,080
Ensembl chr 5:26,221,337...26,225,083
JBrowse link
combined oxidative phosphorylation deficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 More... NCBI chr13:67,153,372...67,188,775
Ensembl chr13:67,151,437...67,189,662
JBrowse link
G RTN4IP1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:67,188,707...67,243,288
Ensembl chr13:67,189,318...67,243,925
JBrowse link
combined oxidative phosphorylation deficiency 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATB glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 | ClinVar Annotator: match by term: GATB-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30283131 NCBI chr 7:98,245,646...98,331,083
Ensembl chr 7:98,245,968...98,331,082
JBrowse link
combined oxidative phosphorylation deficiency 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATC glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 OMIM
ClinVar
PMID:25741868 PMID:30283131 NCBI chr11:115,800,928...115,813,142
Ensembl chr11:115,800,949...115,812,555
JBrowse link
combined oxidative phosphorylation deficiency 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMM22 translocase of inner mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 OMIM
ClinVar
PMID:22638997 PMID:25741868 PMID:30452684 NCBI chr16:724,724...731,212
Ensembl chr16:724,449...730,141
JBrowse link
combined oxidative phosphorylation deficiency 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 | ClinVar Annotator: match by term: FASTKD2-related condition OMIM
ClinVar
PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 More... NCBI chr10:92,550,245...92,585,250
Ensembl chr10:92,549,883...92,587,039
JBrowse link
combined oxidative phosphorylation deficiency 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL12 mitochondrial ribosomal protein L12 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 | ClinVar Annotator: match by term: MRPL12-related condition OMIM
ClinVar
PMID:23603806 NCBI chr16:73,633,786...73,639,142
Ensembl chr16:73,633,918...73,638,902
JBrowse link
combined oxidative phosphorylation deficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 | ClinVar Annotator: match by term: MRPS23-related condition OMIM
ClinVar
PMID:25741868 PMID:26741492 PMID:28492532 NCBI chr16:35,550,023...35,560,259 JBrowse link
combined oxidative phosphorylation deficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSUN3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 OMIM
ClinVar
PMID:25741868 PMID:27356879 PMID:28492532 PMID:32671698 NCBI chr22:86,576,985...86,643,030
Ensembl chr22:86,577,280...86,642,653
JBrowse link
combined oxidative phosphorylation deficiency 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIEF2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 OMIM
ClinVar
PMID:29361167 NCBI chr16:17,301,133...17,306,791
Ensembl chr16:17,301,629...17,308,780
JBrowse link
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia | ClinVar Annotator: match by term: MRPS22-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 More... NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
JBrowse link
combined oxidative phosphorylation deficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 OMIM
ClinVar
PMID:31039582 NCBI chr22:50,985,398...50,997,596
Ensembl chr22:50,984,775...50,997,581
JBrowse link
combined oxidative phosphorylation deficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCD3 pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 OMIM
ClinVar
PMID:25741868 PMID:30607703 PMID:36450274 NCBI chr14:21,019,249...21,050,453
Ensembl chr14:21,015,333...21,050,453
JBrowse link
combined oxidative phosphorylation deficiency 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFS1 NFS1 cysteine desulfurase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 | ClinVar Annotator: match by term: NFS1-related condition OMIM
ClinVar
PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206 NCBI chr 2:56,592,304...56,617,510
Ensembl chr 2:56,592,308...56,617,469
JBrowse link
combined oxidative phosphorylation deficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH2orf69 chromosome unknown C2orf69 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 OMIM
ClinVar
PMID:25741868 PMID:33945503 PMID:34038740 NCBI chr10:85,412,119...85,428,373
Ensembl chr10:85,412,287...85,425,998
JBrowse link
combined oxidative phosphorylation deficiency 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 | ClinVar Annotator: match by term: PRORP-related condition OMIM
ClinVar
PMID:25741868 PMID:34715011 PMID:37558808 NCBI chr24:11,936,410...12,081,721
Ensembl chr24:11,936,410...12,083,519
JBrowse link
combined oxidative phosphorylation deficiency 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 | ClinVar Annotator: match by term: POLRMT-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33602924 NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089
JBrowse link
combined oxidative phosphorylation deficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 | ClinVar Annotator: match by term: TAMM41-related condition OMIM
ClinVar
PMID:25741868 PMID:35321494 NCBI chr22:47,798,325...47,855,262
Ensembl chr22:47,798,290...47,854,946
JBrowse link
combined oxidative phosphorylation deficiency 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRLS1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 57 OMIM
ClinVar
PMID:35147173 NCBI chr 2:32,094,610...32,127,186
Ensembl chr 2:32,091,519...32,127,170
JBrowse link
Combined Oxidative Phosphorylation Deficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TEFM transcription elongation factor, mitochondrial ISO OMIM NCBI chr16:25,601,744...25,609,071
Ensembl chr16:25,601,941...25,608,209
JBrowse link
Combined Oxidative Phosphorylation Deficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 59 OMIM
ClinVar
PMID:8602753 PMID:25741868 PMID:37133451 NCBI chr 2:66,666,083...66,902,386
Ensembl chr 2:66,666,728...66,686,353
JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy OMIM
ClinVar
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy ClinVar PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:105,421,709...105,437,206
Ensembl chr  X:105,424,290...105,437,169
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPHOSPH9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr11:118,496,485...118,576,904
Ensembl chr11:118,495,466...118,574,162
JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr11:118,576,548...118,599,035
Ensembl chr11:118,576,618...118,598,106
JBrowse link
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 OMIM
ClinVar
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr17:27,855,688...27,869,427
Ensembl chr17:27,855,713...27,870,409
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:25741868 PMID:37377599 NCBI chr17:28,637,868...28,649,898 JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy ClinVar PMID:26008905 NCBI chr 1:103,443,666...103,452,681 JBrowse link
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 | ClinVar Annotator: match by term: MRPL3-related condition OMIM
ClinVar
PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 NCBI chr15:58,732,262...58,772,638
Ensembl chr15:58,732,268...58,772,538
JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160
JBrowse link
G SCO2 SCO2, cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 More... NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996
JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
JBrowse link
cytochrome-c oxidase deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX10 COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:12928484 PMID:22669974 PMID:23814038 PMID:24100867 PMID:25741868 More... NCBI chr16:13,410,654...13,550,922
Ensembl chr16:13,410,792...13,551,903
JBrowse link
G COX20 COX20, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr25:81,861,673...81,869,597
Ensembl chr25:81,862,035...81,869,506
JBrowse link
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:25497598 PMID:25741868 PMID:25842391 PMID:28492532 NCBI chr10:92,550,245...92,585,250
Ensembl chr10:92,549,883...92,587,039
JBrowse link
G LOC103229762 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: COX deficiency ClinVar PMID:25175347 PMID:25741868 PMID:28492532 NCBI chr24:81,503,069...81,533,578
Ensembl chr24:81,503,134...81,535,430
JBrowse link
G LOC103233807 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr 6:7,116,233...7,118,101
Ensembl chr 6:7,116,314...7,118,030
JBrowse link
G LOC103239687 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease
ClinVar Annotator: match by term: Complex IV deficiency
ClinVar PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:10647889 More... NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385
JBrowse link
G LOC103242353 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 NCBI chr16:7,611,114...7,611,617 JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160
JBrowse link
G SCO1 SCO1, cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,021,480...10,036,920 JBrowse link
G SCO2 SCO2, cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996
JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460
JBrowse link
G TACO1 translational activator of cytochrome c oxidase 1 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr16:57,681,289...57,688,814
Ensembl chr16:57,680,423...57,688,712
JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:89,690,569...89,727,420 JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar
PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 More... NCBI chr  X:89,686,772...89,690,088
Ensembl chr  X:89,687,304...89,689,810
JBrowse link
Deoxyguanosine Kinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGUOK deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26342080 NCBI chr14:33,320,957...33,356,088
Ensembl chr14:33,320,969...33,356,093
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome ClinVar PMID:23714749 PMID:25741868 PMID:26437932 PMID:28492532 PMID:28673863 More... NCBI chr14:80,289,285...80,302,838 JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26342080 NCBI chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
JBrowse link
G TFAM transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397
JBrowse link
developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: SLC25A12-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 More... NCBI chr10:57,268,948...57,387,958
Ensembl chr10:57,265,550...57,387,910
JBrowse link
encephalopathy due to defective mitochondrial and peroxisomal fission 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr 9:86,746,658...86,772,052
Ensembl chr 9:86,749,730...86,771,115
JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 OMIM
ClinVar
PMID:9536098 PMID:12618434 PMID:17460227 PMID:17576681 PMID:18414213 More... NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661
JBrowse link
G OSBPL7 oxysterol binding protein like 7 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr16:68,208,121...68,222,684 JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr11:32,181,214...32,192,654
Ensembl chr11:32,181,397...32,192,454
JBrowse link
encephalopathy due to defective mitochondrial and peroxisomal fission 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFF mitochondrial fission factor ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | ClinVar Annotator: match by term: MFF-related condition OMIM
ClinVar
PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 More... NCBI chr10:113,348,330...113,381,875
Ensembl chr10:113,348,446...113,381,162
JBrowse link
ethylmalonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CADM4 cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,143,477...37,161,524
Ensembl chr 6:37,140,676...37,161,524
JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342
JBrowse link
G CEACAM19 CEA cell adhesion molecule 19 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:38,141,944...38,162,663
Ensembl chr 6:38,150,297...38,161,807
JBrowse link
G CEACAM20 CEA cell adhesion molecule 20 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,962,389...37,999,329
Ensembl chr 6:37,962,583...37,991,246
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy OMIM
ClinVar
PMID:2777167 PMID:9536098 PMID:14732903 PMID:16183799 PMID:16199547 More... NCBI chr 6:37,024,015...37,045,628
Ensembl chr 6:37,024,014...37,045,737
JBrowse link
G IGSF23 immunoglobulin superfamily member 23 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:38,093,614...38,120,993 JBrowse link
G IRGC immunity related GTPase cinema ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,239,527...37,241,438
Ensembl chr 6:37,239,976...37,241,367
JBrowse link
G IRGQ immunity related GTPase Q ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,111,782...37,116,258
Ensembl chr 6:37,112,015...37,115,322
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,289,088...37,316,850 JBrowse link
G LOC103234814 zinc finger protein 224 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,564,943...37,580,680
Ensembl chr 6:37,573,936...37,583,320
JBrowse link
G LOC103234825 PVR cell adhesion molecule ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:38,127,864...38,141,612 JBrowse link
G LYPD5 LY6/PLAUR domain containing 5 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,308,038...37,349,342
Ensembl chr 6:37,324,610...37,329,872
JBrowse link
G PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,095,060...37,101,645 JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,161,957...37,191,867 JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,253,023...37,277,536
Ensembl chr 6:37,250,791...37,277,557
JBrowse link
G SRRM5 serine/arginine repetitive matrix 5 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,132,666...37,138,579 JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
JBrowse link
G ZNF112 zinc finger protein 112 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,798,281...37,830,673
Ensembl chr 6:37,798,285...37,808,975
JBrowse link
G ZNF155 zinc finger protein 155 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,476,605...37,603,208
Ensembl chr 6:37,482,533...37,492,376
JBrowse link
G ZNF180 zinc finger protein 180 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,932,745...37,955,742
Ensembl chr 6:37,933,500...37,955,708
JBrowse link
G ZNF221 zinc finger protein 221 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,451,374...37,459,679
Ensembl chr 6:37,455,895...37,458,991
JBrowse link
G ZNF223 zinc finger protein 223 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,513,375...37,528,738
Ensembl chr 6:37,522,806...37,528,939
JBrowse link
G ZNF225 zinc finger protein 225 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,606,860...37,622,663 JBrowse link
G ZNF226 zinc finger protein 226 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,653,562...37,665,805 JBrowse link
G ZNF227 zinc finger protein 227 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,701,518...37,755,414 JBrowse link
G ZNF229 zinc finger protein 229 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,876,143...37,899,795
Ensembl chr 6:37,876,877...37,893,327
JBrowse link
G ZNF230 zinc finger protein 230 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532
G ZNF233 zinc finger protein 233 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532
G ZNF234 zinc finger protein 234 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,631,168...37,646,193 JBrowse link
G ZNF235 zinc finger protein 235 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,766,447...37,786,841 JBrowse link
G ZNF283 zinc finger protein 283 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,358,888...37,375,262 JBrowse link
G ZNF285 zinc finger protein 285 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,838,406...37,852,541 JBrowse link
G ZNF404 zinc finger protein 404 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,391,234...37,404,498 JBrowse link
G ZNF428 zinc finger protein 428 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,128,017...37,138,403
Ensembl chr 6:37,128,177...37,140,602
JBrowse link
G ZNF45 zinc finger protein 45 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,415,491...37,427,033
Ensembl chr 6:37,412,926...37,422,425
JBrowse link
G ZNF575 zinc finger protein 575 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,050,158...37,052,267
Ensembl chr 6:37,050,665...37,052,585
JBrowse link
G ZNF576 zinc finger protein 576 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:37,116,378...37,119,975
Ensembl chr 6:37,116,254...37,123,445
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 | ClinVar Annotator: match by term: ROBO3-related condition OMIM
ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697
JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103239687 surfeit locus protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385
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 chr14:63,263,101...63,380,607 JBrowse link
Friedreich ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO DNA:SNP: :rs5186(human) RGD PMID:21771600 RGD:401717567 NCBI chr15:41,957,826...42,002,776 JBrowse link
G FXN frataxin onset
treatment
ISO DNA:repeat,deletion:intron,exon:GAA(human)
ClinVar Annotator: match by term: Friedreich ataxia
RGD
ClinVar
PMID:8596916 PMID:8751856 PMID:9090376 PMID:9150176 PMID:9700204 More... RGD:401793707 RGD:401793708 RGD:401793711 RGD:401793713 NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin ISO ClinVar Annotator: match by term: FXN-related disorder | ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:8596916 PMID:8751856 PMID:9090376 PMID:9700204 PMID:9737785 More... NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168
JBrowse link
Glutaric Aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Glutaric acidemia type 2A ClinVar PMID:9536098 PMID:16510302 PMID:17576681 PMID:18289905 PMID:23785301 More... NCBI chr26:6,970,593...7,075,077
Ensembl chr26:6,970,584...7,076,049
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099
JBrowse link
HMG-CoA synthase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: HMGCS2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY OMIM
ClinVar
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 More... NCBI chr20:14,018,669...14,040,934
Ensembl chr20:14,019,692...14,041,016
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency ClinVar PMID:25741868 NCBI chr20:14,045,395...14,075,935
Ensembl chr20:14,045,346...14,076,177
JBrowse link
Hypermetabolism due to Defect in Mitochondria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1B ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: Hypermetabolism due to Defect in Mitochondrial Coupling ClinVar PMID:36239646 NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756
JBrowse link
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1B ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 OMIM
ClinVar
PMID:36239646 NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756
JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: HSPD1-related condition | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 OMIM
ClinVar
PMID:18414213 PMID:18571143 PMID:22552817 PMID:24033266 PMID:25741868 More... NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chr 9:53,411,869...53,462,773
Ensembl chr 9:53,411,889...53,464,668
JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407
CTD
MouseDO
PMID:26247364 NCBI chr14:62,457,493...62,879,767 JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr14:63,003,885...63,093,584
Ensembl chr14:63,016,553...63,093,592
JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr14:62,879,616...62,925,265
Ensembl chr14:62,875,133...62,924,746
JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr14:62,924,906...62,971,268
Ensembl chr14:62,925,443...62,971,252
JBrowse link
isolated mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant OMIM
ClinVar
PMID:4104978 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 More... NCBI chr19:6,882,007...6,884,176
Ensembl chr19:6,878,662...6,884,655
JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance ClinVar PMID:28492532 NCBI chr19:6,878,973...6,882,034
Ensembl chr19:6,879,478...6,881,927
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582
JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397
JBrowse link
Late-Onset Carnitine Palmitoyltransferase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LATE-ONSET | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced OMIM
ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr20:79,710,638...79,728,100
Ensembl chr20:79,706,584...79,727,689
JBrowse link
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698
JBrowse link
G EPHX1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chr 7:101,297,114...101,304,675
Ensembl chr 7:101,297,691...101,302,520
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:25741868 NCBI chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704
JBrowse link
G PARL presenilin associated rhomboid like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791 PMID:20711738 RGD:12902617 RGD:12902618 NCBI chr15:5,536,556...5,589,522
Ensembl chr15:5,536,610...5,590,825
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:32516135 NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689
JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr24:44,957,854...44,971,855
Ensembl chr24:44,959,921...44,971,836
JBrowse link
G RP1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:28492532 NCBI chr 8:50,743,699...50,837,089
Ensembl chr 8:50,627,957...50,685,911
Ensembl chr 8:50,627,957...50,685,911
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chr20:64,662,777...64,684,178
Ensembl chr20:64,664,358...64,683,211
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr29:21,769,366...21,822,346
Ensembl chr29:21,762,809...21,822,249
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:12601034 PMID:15293270 RGD:8158101 RGD:8158104 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
JBrowse link
G TP53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20818383 PMID:22200994 PMID:25741868 More... NCBI chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704
JBrowse link
Leber Optic Atrophy, Susceptibility To term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: LHON, MODIFIER OF ClinVar PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr28:9,383,068...9,385,590
Ensembl chr28:9,383,095...9,383,775
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO OMIM NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689
JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 2:42,670,613...42,706,341
Ensembl chr 2:42,670,421...42,711,024
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO MouseDO NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689
JBrowse link
Leigh disease term browser
Symbol Object Name Qualifiers 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