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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:mitochondrial metabolism disease
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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;   Respiratory Chain Deficiency;   respiratory chain deficiencies
 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
 related_synonym: Mitochondrial Diseases
 primary_id: MESH:D028361
 xref: EFO:0000591;   GARD:7048;   MONDO:0004069
For additional species annotation, visit the Alliance of Genome Resources.


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 chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:29478781
G CADM1 cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr 5:145,644,164...145,714,143
Ensembl chr 5:151,649,062...151,719,373 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		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 chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		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 chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818383 NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		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 chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:28492532 PMID:29075935 NCBI chr 5:40,543,368...40,589,478
Ensembl chr 5:41,153,714...41,204,297 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		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 chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr2B:77,510,938...77,652,911 JBrowse link
G LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO MouseDO NCBI chr19:26,139,335...26,145,231
Ensembl chr19:34,905,765...34,911,712 		JBrowse link
G LOC100983451 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 chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Abnormality of the mitochondrion ClinVar NCBI chr19:6,919,469...6,921,359 JBrowse link
G LOC100988585 transmembrane protein 220 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17182746 NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520 		JBrowse link
G LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 NCBI chr 1:220,432,447...220,440,416
Ensembl chr 1:225,812,621...225,820,925 		JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr16:68,063,869...68,076,772 JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO DNA:missense mutations, frameshift mutations:multiple (human) RGD PMID:11170888 RGD:2316864 NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106 		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 chr 1:28,463,466...28,501,518
Ensembl chr 1:29,490,318...29,527,704 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr20:17,928,751...17,950,907
Ensembl chr20:17,907,241...17,929,214 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:37133451 NCBI chr21:12,027,383...12,052,370
Ensembl chr21:25,388,661...25,410,490 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr11:73,496,423...73,634,623
Ensembl chr11:77,117,668...77,255,037 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:30245030 PMID:30847515 NCBI chr22:22,978,954...22,987,979
Ensembl chr22:41,066,111...41,074,852 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:31866046 NCBI chr17:75,665,568...75,667,559 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 chr19:14,129,123...14,135,129
Ensembl chr19:14,972,882...14,978,730 		JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:32969598 NCBI chr11:73,128,457...73,140,344
Ensembl chr11:76,720,094...76,763,098 		JBrowse link
G NOL3 nucleolar protein 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19139834 NCBI chr16:47,516,156...47,521,441
Ensembl chr16:66,904,738...66,909,956 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16157314 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818383 NCBI chr14:12,338,341...12,628,346 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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:30201738 NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101 		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:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443 		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:2725645 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		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 chr 6:149,222,867...149,268,725
Ensembl chr 6:153,919,641...153,965,134 		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 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		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 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9917329 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Abnormality of the mitochondrion ClinVar NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		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 chr11:80,684,485...80,692,441 JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:29290614 NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30673822 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:25741868 PMID:27132592 NCBI chr 3:98,671,176...98,675,743 JBrowse link
G TTC19 tetratricopeptide repeat domain 19 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar NCBI chr17:34,902,211...34,931,963 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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Mitochondrial disease ClinVar PMID:28812649 NCBI chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026 		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 chr 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606 		JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,075,360...159,219,887
Ensembl chr 6:164,092,522...164,229,696 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:156,530,068...156,538,346 JBrowse link
G EZR ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:156,656,146...156,709,986
Ensembl chr 6:161,670,483...161,723,102 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,057,862...157,160,066
Ensembl chr 6:162,098,598...162,173,981 		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 chr 6:158,126,665...158,153,663 JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762 		JBrowse link
G LOC100982214 plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777 		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 chr 6:158,434,394...158,628,028 JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,937,424...159,062,550
Ensembl chr 6:163,948,122...164,073,264 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,774,098...157,799,983
Ensembl chr 6:162,801,416...162,802,393 		JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,673,328...157,681,324
Ensembl chr 6:162,684,958...162,693,002 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,682,286...157,707,632
Ensembl chr 6:162,694,724...162,716,700 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770 		JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:156,861,740...156,889,821
Ensembl chr 6:161,880,465...161,904,315 		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 OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 6:156,009,815...156,067,675
Ensembl chr 6:158,068,838...158,126,603 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,004,545...158,046,428
Ensembl chr 6:163,014,663...163,054,681 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,240,390...158,344,338
Ensembl chr 6:163,247,643...163,349,735 		JBrowse link
G SOD2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G SYTL3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:156,537,572...156,655,272
Ensembl chr 6:161,559,559...161,669,609 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:156,923,859...156,934,714
Ensembl chr 6:161,938,457...161,949,158 		JBrowse link
G TCP1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,661,409...157,672,581
Ensembl chr 6:162,673,596...162,683,985 		JBrowse link
G TMEM181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:156,431,076...156,529,012
Ensembl chr 6:161,445,828...161,539,535 		JBrowse link
G TULP4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:156,134,524...156,406,899
Ensembl chr 6:161,227,355...161,416,546 		JBrowse link
G WTAP WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:157,609,779...157,639,122
Ensembl chr 6:162,621,842...162,650,683 		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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		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 chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr2A:94,961,024...95,029,437 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 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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr19:504,823...521,281
Ensembl chr19:584,219...599,783 		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 chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971 		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, AUTOSOMAL DOMINANT 1 | 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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		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:11431686 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		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:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		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:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193 		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:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503 		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:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More... NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component 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 chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984 		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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		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 OMIM
ClinVar		 PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr2A:3,550,303...3,578,161
Ensembl chr2A:3,482,772...3,496,978 		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 OMIM
ClinVar		 PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More... NCBI chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315 		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:16908739 PMID:17073823 PMID:17452231 More... NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		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 chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135 		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 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988698 mitochondrial chaperone BCS1 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 chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		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 chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728 		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 ClinVar
OMIM		 PMID:736528 PMID:835844 PMID:1528846 PMID:2647738 PMID:2762996 More... NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994 		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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		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 chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		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 chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503 		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 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		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 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		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 chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		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 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		JBrowse link
G COQ9 coenzyme Q9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr16:37,723,452...37,737,327
Ensembl chr16:56,856,401...56,870,260 		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 chr10:26,811,243...26,863,594
Ensembl chr10:27,178,933...27,227,542 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055 		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 chr 6:43,895,255...43,909,347
Ensembl chr 6:45,176,773...45,191,505 		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:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr16:14,552,664...14,588,022
Ensembl chr16:23,774,123...23,809,873 		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 chr 3:155,670,432...155,721,404
Ensembl chr 3:163,721,479...163,769,454 		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 chr16:14,599,074...14,643,641
Ensembl chr16:23,718,891...23,763,948 		JBrowse link
G MRPS16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr10:69,796,505...69,800,304
Ensembl chr10:72,255,326...72,259,172 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		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 chr 6:71,282,988...71,325,075
Ensembl chr 6:74,570,890...74,612,567 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257 		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:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:28492532 NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		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:28492532 Ensembl chr16:29,227,852...29,233,513 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 chr 3:155,670,432...155,721,404
Ensembl chr 3:163,721,479...163,769,454 		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:28492532 PMID:29075935 NCBI chr 5:40,543,368...40,589,478
Ensembl chr 5:41,153,714...41,204,297 		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 chr2B:111,203,655...111,213,888
Ensembl chr2B:229,779,983...229,790,240 		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 chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		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 chr11:73,496,423...73,634,623
Ensembl chr11:77,117,668...77,255,037 		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 chr 6:30,659,346...30,671,678
Ensembl chr 6:31,527,372...31,539,814 		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 chr 6:71,342,291...71,346,033
Ensembl chr 6:74,629,688...74,633,754 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608499 PMID:23929671 More... NCBI chr 6:71,282,988...71,325,075
Ensembl chr 6:74,570,890...74,612,567 		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 OMIM
ClinVar		 PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 More... NCBI chr 6:149,222,867...149,268,725
Ensembl chr 6:153,919,641...153,965,134 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 ClinVar PMID:12826609 PMID:23265383 PMID:26619011 PMID:28492532 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome OMIM
ClinVar		 PMID:22492562 PMID:23008233 PMID:24706556 PMID:25058219 PMID:25741868 More... NCBI chr16:14,552,664...14,588,022
Ensembl chr16:23,774,123...23,809,873 		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 chr16:14,599,074...14,643,641
Ensembl chr16:23,718,891...23,763,948 		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:11080643 PMID:16199547 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr2A:55,792,412...55,848,242
Ensembl chr2A:56,931,365...56,986,326 		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 chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961 		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 chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749 		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 chr 6:4,887,010...5,096,384
Ensembl chr 6:5,127,918...5,279,038 		JBrowse link
G NRN1 neuritin 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:22833457 PMID:28492532 NCBI chr 6:5,832,603...5,841,975
Ensembl chr 6:6,014,000...6,022,870 		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 OMIM
ClinVar		 PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612 		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 OMIM
ClinVar		 PMID:23315540 PMID:25326637 PMID:25741868 PMID:25797485 PMID:26001801 More... NCBI chr2B:111,203,655...111,213,888
Ensembl chr2B:229,779,983...229,790,240 		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 susceptibility ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 ClinVar
OMIM		 PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:12515253 More... NCBI chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241 		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 OMIM
ClinVar		 PMID:16199547 PMID:24119684 PMID:25741868 PMID:28492532 NCBI chr10:115,700,886...115,736,359
Ensembl chr10:119,135,711...119,160,711 		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 PMID:25741868 PMID:28492532 NCBI chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749 		JBrowse link
G LYRM4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 OMIM
ClinVar		 PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr 6:4,887,010...5,096,384
Ensembl chr 6:5,127,918...5,279,038 		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 OMIM
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr10:69,796,505...69,800,304
Ensembl chr10:72,255,326...72,259,172 		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 | ClinVar Annotator: match by term: VARS2-related disorders OMIM
ClinVar		 PMID:12345 PMID:16199547 PMID:24639874 PMID:24827421 PMID:25058219 More... NCBI chr 6:30,659,346...30,671,678
Ensembl chr 6:31,527,372...31,539,814 		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 OMIM
ClinVar		 PMID:24827421 PMID:25741868 PMID:28492532 PMID:33153448 PMID:34508595 NCBI chr 1:125,832,693...125,852,918
Ensembl chr 1:129,480,824...129,501,639 		JBrowse link
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 chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		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 OMIM
ClinVar		 PMID:16199547 PMID:25434004 PMID:25741868 PMID:28492532 PMID:33619562 NCBI chr19:16,822,786...16,830,787
Ensembl chr19:17,797,131...17,804,481 		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:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 More... NCBI chr11:73,496,423...73,634,623
Ensembl chr11:77,117,668...77,255,037 		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 OMIM
ClinVar		 PMID:25741868 PMID:25754315 PMID:28492532 NCBI chr2B:84,954,833...84,957,871
Ensembl chr2B:202,847,478...202,849,259 		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 OMIM
ClinVar		 PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 PMID:29021354 More... NCBI chr14:41,578,241...41,588,494
Ensembl chr14:59,836,906...59,845,936 		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 chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000 		JBrowse link
G NAXD NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 ClinVar PMID:28492532 NCBI chr13:91,750,962...91,775,364
Ensembl chr13:110,867,144...110,891,404 		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 OMIM
ClinVar		 PMID:25741868 PMID:26522469 PMID:28492532 NCBI chr 3:66,112,241...66,271,151
Ensembl chr 3:67,483,669...67,642,988 		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 OMIM
ClinVar		 PMID:25741868 PMID:26626369 PMID:28492532 NCBI chr22:17,384,017...17,398,965
Ensembl chr22:35,220,721...35,235,877 		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 chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 | ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS | ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		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 OMIM
ClinVar		 PMID:25741868 PMID:27132592 NCBI chr 3:98,671,176...98,675,743 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 OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582 		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 PMID:25741868 PMID:28492532 PMID:28777931 PMID:35326425 NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 OMIM
ClinVar		 PMID:2877793 PMID:25741868 PMID:28492532 PMID:28777931 PMID:32445240 More... NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558 		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: Combined oxidative phosphorylation deficiency 33 OMIM
ClinVar		 PMID:28492532 PMID:28942965 PMID:32652806 PMID:34003581 NCBI chr17:5,481,114...5,487,482
Ensembl chr17:5,473,239...5,479,735 		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 PMID:25741868 PMID:28492532 NCBI chr17:69,185,045...69,208,766
Ensembl chr17:74,737,164...74,762,039 		JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 OMIM
ClinVar		 PMID:9063420 PMID:25556185 PMID:25741868 PMID:28492532 NCBI chr17:69,208,788...69,213,461
Ensembl chr17:74,762,057...74,766,891 		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 OMIM
ClinVar		 PMID:24901367 PMID:25741868 PMID:25954003 PMID:26381753 PMID:27618451 More... NCBI chr 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29576219 NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		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: Mitochondrial hepato-encephalopathy OMIM
ClinVar		 PMID:27485409 PMID:27623147 PMID:29618761 NCBI chr19:4,695,760...4,698,236
Ensembl chr19:5,631,304...5,633,783 		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 OMIM
ClinVar		 PMID:30358850 NCBI chr 1:150,524,532...150,535,053
Ensembl chr 1:154,222,744...154,233,292 		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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22700954 PMID:25741868 PMID:26016410 More... NCBI chr 5:40,543,368...40,589,478
Ensembl chr 5:41,153,714...41,204,297 		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 OMIM
ClinVar		 PMID:17160893 PMID:19524667 PMID:20435138 PMID:25741868 PMID:26741492 More... Ensembl chr16:29,227,852...29,233,513 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 chr 6:104,444,646...104,481,732
Ensembl chr 6:108,315,270...108,353,505 		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 chr 6:104,368,222...104,444,583
Ensembl chr 6:108,258,745...108,315,214 		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 OMIM
ClinVar		 PMID:25741868 PMID:30283131 NCBI chr 4:144,005,127...144,095,552
Ensembl chr 4:155,657,600...155,747,679 		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 chr12:118,028,042...118,045,403
Ensembl chr12:121,402,532...121,419,628 		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 chr17:962,571...968,320
Ensembl chr17:886,776...892,041 		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:25497598 PMID:25741868 PMID:25842391 PMID:28492532 More... NCBI chr2B:93,999,837...94,030,683
Ensembl chr2B:212,129,283...212,154,329 		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 OMIM
ClinVar		 PMID:23603806 NCBI chr17:76,162,710...76,166,862
Ensembl chr17:81,863,518...81,867,734 		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 OMIM
ClinVar		 PMID:25741868 PMID:26741492 PMID:28492532 NCBI chr17:51,917,574...51,929,577
Ensembl chr17:56,775,846...56,787,058 		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:27356879 PMID:28492532 PMID:32671698 NCBI chr 3:91,128,431...91,203,337
Ensembl chr 3:97,807,732...97,878,472 		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 chr17:32,805,453...32,810,668
Ensembl chr17:37,944,215...37,949,451 		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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 More... NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		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 chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594 		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 chr2A:86,157,741...86,192,227
Ensembl chr2A:87,705,389...87,740,432 		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 OMIM
ClinVar		 PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206 NCBI chr20:31,994,509...32,026,776 JBrowse link
combined oxidative phosphorylation deficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13H2orf69 chromosome 13 C2orf69 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 OMIM
ClinVar		 PMID:25741868 PMID:33945503 PMID:34038740 NCBI chr2B:87,160,309...87,177,161
Ensembl chr2B:205,319,094...205,333,361 		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 OMIM
ClinVar		 PMID:25741868 PMID:34715011 PMID:37558808 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		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 OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:28492532 PMID:33602924 NCBI chr19:504,823...521,281
Ensembl chr19:584,219...599,783 		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 OMIM
ClinVar		 PMID:35321494 NCBI chr 3:11,655,271...11,780,497
Ensembl chr 3:12,068,067...12,124,535 		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 chr20:6,003,915...6,037,853
Ensembl chr20:5,786,880...5,820,285 		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 chr17:25,933,934...25,941,220
Ensembl chr17:25,423,956...25,432,198 		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 chr21:12,027,383...12,052,370
Ensembl chr21:25,388,661...25,410,490 		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:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271 		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:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214 		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 chr12:120,755,760...120,831,536
Ensembl chr12:124,991,210...125,065,203 		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 chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615 		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 chr 6:43,895,255...43,909,347
Ensembl chr 6:45,176,773...45,191,505 		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:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257 		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 OMIM
ClinVar		 PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 NCBI chr 3:128,544,224...128,609,045
Ensembl chr 3:135,866,397...135,907,043 		JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100976808 protein SCO2 homolog, mitochondrial 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 chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		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 chr22:30,772,088...30,776,618 JBrowse link
cytochrome-c oxidase deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUTC cutC copper transporter ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr10:96,349,218...96,373,147
Ensembl chr10:99,841,237...99,864,633 		JBrowse link
G ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar NCBI chr10:96,276,454...96,323,287
Ensembl chr10:99,768,566...99,813,568 		JBrowse link
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 More... NCBI chr2B:93,999,837...94,030,683
Ensembl chr2B:212,129,283...212,154,329 		JBrowse link
G LOC100970874 cytochrome c oxidase assembly factor 3 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25604084 NCBI chr17:14,519,214...14,520,292
Ensembl chr17:14,744,405...14,745,490 		JBrowse link
G LOC100972703 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 NCBI chr19:32,578,126...32,588,684
Ensembl chr19:41,314,020...41,324,489 		JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:25959673 PMID:26467025 More... NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9536098 PMID:12928484 PMID:17576681 PMID:22669974 PMID:23814038 More... NCBI chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762 		JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease
ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease		 ClinVar PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 More... NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100983712 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 chr19:6,919,469...6,921,359 JBrowse link
G LOC100988585 transmembrane protein 220 ISO ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520 		JBrowse link
G LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30656193 More... NCBI chr 1:220,432,447...220,440,416
Ensembl chr 1:225,812,621...225,820,925 		JBrowse link
G LOC100993532 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:28492532 NCBI chr10:96,328,841...96,349,655
Ensembl chr10:99,820,763...99,841,554 		JBrowse link
G LOC100993710 cytochrome c oxidase assembly protein COX18, mitochondrial ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25741868 NCBI chr 4:51,128,391...51,142,068
Ensembl chr 4:57,445,838...57,459,207 		JBrowse link
G LOC100994669 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25175347 PMID:25741868 PMID:28492532 NCBI chr14:84,189,323...84,217,230
Ensembl chr14:104,000,692...104,027,230 		JBrowse link
G LOC100995944 translational activator of cytochrome c oxidase 1 ISO ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr17:57,680,741...57,688,235
Ensembl chr17:62,827,083...62,833,925 		JBrowse link
G LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:25741868 PMID:26685157 NCBI chr11:59,331,536...59,333,496
Ensembl chr11:62,679,993...62,681,978 		JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:28492532 NCBI chr2B:111,203,655...111,213,888
Ensembl chr2B:229,779,983...229,790,240 		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 Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 PMID:28518168 More... NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		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 chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		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 chr22:30,772,088...30,776,618 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:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... NCBI chr  X:90,548,212...90,551,534
Ensembl chr  X:100,680,224...100,683,544 		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 chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26342080 NCBI chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314 		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 chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972 		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: Hypomyelination, global cerebral OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 More... NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894 		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 chr10:90,239,770...90,275,156
Ensembl chr10:93,750,177...93,784,890 		JBrowse link
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: DNM1L-related disorders | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 OMIM
ClinVar		 PMID:17460227 PMID:18414213 PMID:20696759 PMID:25326635 PMID:25741868 More... NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		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 chr17:9,715,464...9,729,950
Ensembl chr17:9,897,768...9,912,065 		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 chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026 		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 OMIM
ClinVar		 PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 More... NCBI chr2B:114,569,893...114,602,158
Ensembl chr2B:233,381,466...233,413,778 		JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDX2 ferredoxin 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM
ClinVar		 PMID:24281368 PMID:25741868 PMID:28492532 NCBI chr19:9,860,316...9,866,442
Ensembl chr19:10,526,287...10,532,152 		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 chr19:40,564,288...40,581,830
Ensembl chr19:49,172,485...49,180,023 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,649,625...41,659,151
Ensembl chr19:50,254,123...50,262,808 		JBrowse link
G CEACAM19 CEA cell adhesion molecule 19 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,614,778...41,632,538 JBrowse link
G CEACAM20 CEA cell adhesion molecule 20 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,452,476...41,481,288
Ensembl chr19:50,058,021...50,085,252 		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 chr19:40,447,367...40,469,037 JBrowse link
G IGSF23 immunoglobulin superfamily member 23 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,570,393...41,585,036
Ensembl chr19:50,166,473...50,188,638 		JBrowse link
G IRGC immunity related GTPase cinema ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,664,034...40,669,120
Ensembl chr19:49,272,639...49,274,030 		JBrowse link
G IRGQ immunity related GTPase Q ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,533,711...40,538,157
Ensembl chr19:49,141,775...49,146,061 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900 		JBrowse link
G LYPD5 LY6/PLAUR domain containing 5 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,735,046...40,776,386
Ensembl chr19:49,349,880...49,380,252 		JBrowse link
G PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,517,393...40,524,027
Ensembl chr19:49,126,946...49,132,243 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561
Ensembl chr19:49,197,341...49,222,561 		JBrowse link
G PVR PVR cell adhesion molecule ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,592,042...41,614,397
Ensembl chr19:50,196,980...50,217,006 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,679,952...40,704,104
Ensembl chr19:49,285,796...49,309,980 		JBrowse link
G SRRM5 serine/arginine repetitive matrix 5 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,543,224...40,556,092 JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
G ZNF112 zinc finger protein 112 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,276,839...41,313,423
Ensembl chr19:49,887,737...49,918,319 		JBrowse link
G ZNF155 zinc finger protein 155 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,917,031...40,950,552
Ensembl chr19:49,564,348...49,575,399 		JBrowse link
G ZNF180 zinc finger protein 180 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,427,334...41,451,719
Ensembl chr19:50,032,526...50,056,782 		JBrowse link
G ZNF221 zinc finger protein 221 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,900,192...40,916,949
Ensembl chr19:49,522,225...49,526,848 		JBrowse link
G ZNF222 zinc finger protein 222 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,979,600...40,987,373
Ensembl chr19:49,586,812...49,594,563 		JBrowse link
G ZNF223 zinc finger protein 223 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,006,261...41,022,240
Ensembl chr19:49,613,077...49,629,055 		JBrowse link
G ZNF224 zinc finger protein 224 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,048,581...41,063,656
Ensembl chr19:49,658,880...49,669,288 		JBrowse link
G ZNF225 zinc finger protein 225 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,067,732...41,085,593
Ensembl chr19:49,674,510...49,693,692 		JBrowse link
G ZNF226 zinc finger protein 226 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,117,529...41,130,173
Ensembl chr19:49,728,928...49,738,272 		JBrowse link
G ZNF227 zinc finger protein 227 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,162,098...41,192,535
Ensembl chr19:49,768,049...49,798,877 		JBrowse link
G ZNF229 zinc finger protein 229 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,379,100...41,401,448
Ensembl chr19:49,984,158...50,006,462 		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 NCBI chr19:41,214,920...41,229,897
Ensembl chr19:49,825,799...49,836,128 		JBrowse link
G ZNF234 zinc finger protein 234 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,093,692...41,113,296
Ensembl chr19:49,700,599...49,718,166 		JBrowse link
G ZNF235 zinc finger protein 235 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,241,063...41,262,655
Ensembl chr19:49,798,325...49,866,576 		JBrowse link
G ZNF283 zinc finger protein 283 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,776,561...40,798,187
Ensembl chr19:49,384,387...49,401,769 		JBrowse link
G ZNF284 zinc finger protein 284 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,025,061...41,043,827
Ensembl chr19:49,633,212...49,650,564 		JBrowse link
G ZNF285 zinc finger protein 285 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:41,334,380...41,354,513
Ensembl chr19:49,941,320...49,960,603 		JBrowse link
G ZNF404 zinc finger protein 404 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,819,209...40,851,570
Ensembl chr19:49,428,758...49,436,648 		JBrowse link
G ZNF428 zinc finger protein 428 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,549,348...40,561,714
Ensembl chr19:49,157,154...49,170,604 		JBrowse link
G ZNF45 zinc finger protein 45 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,862,368...40,885,646
Ensembl chr19:49,472,480...49,495,145 		JBrowse link
G ZNF575 zinc finger protein 575 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,474,034...40,479,751
Ensembl chr19:49,077,130...49,087,066 		JBrowse link
G ZNF576 zinc finger protein 576 ISO ClinVar Annotator: match by term: Ethylmalonic encephalopathy ClinVar PMID:28492532 NCBI chr19:40,538,271...40,541,871
Ensembl chr19:49,146,290...49,149,922 		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 chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356 		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 OMIM
ClinVar		 PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356 		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 chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983451 surfeit locus protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		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: 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 chr2A:43,975,949...44,083,846
Ensembl chr2A:44,914,578...45,021,434 		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 chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380 		JBrowse link
G FXN frataxin onset
treatment		 ISO ClinVar Annotator: match by term: Friedreich ataxia
DNA:repeat,deletion:intron,exon:GAA(human)		 ClinVar
RGD		 PMID:8596916 PMID:9090376 PMID:9150176 PMID:9700204 PMID:9737785 More... RGD:401793707 RGD:401793708 RGD:401793711 RGD:401793713 NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031 		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: Friedreich ataxia 1 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:34906502 NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031 		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 chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		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: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY OMIM
ClinVar		 PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 More... NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency ClinVar NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,133,490...35,538,443
Ensembl chr 4:40,988,428...41,189,064 		JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,654,043...34,675,984
Ensembl chr 4:40,509,475...40,528,869 		JBrowse link
G FAM114A1 family with sequence similarity 114 member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,195,907...33,274,081
Ensembl chr 4:39,049,619...39,127,656 		JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,736,350...33,780,309
Ensembl chr 4:39,588,702...39,632,480 		JBrowse link
G KLHL5 kelch like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,372,076...33,452,745
Ensembl chr 4:39,243,639...39,301,418 		JBrowse link
G LIAS lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 4:33,787,804...33,806,289
Ensembl chr 4:39,639,960...39,657,805 		JBrowse link
G LIMCH1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,685,904...36,025,582
Ensembl chr 4:41,533,560...41,873,694 		JBrowse link
G N4BP2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,380,215...34,482,797
Ensembl chr 4:40,253,199...40,336,040 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,071,093...35,131,207
Ensembl chr 4:40,922,714...40,982,315 		JBrowse link
G PDS5A PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,149,622...34,303,065
Ensembl chr 4:40,002,869...40,156,698 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		JBrowse link
G RBM47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,744,484...34,951,402
Ensembl chr 4:40,597,366...40,640,599 		JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548 		JBrowse link
G RHOH ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124 		JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:33,782,911...33,787,737
Ensembl chr 4:39,635,067...39,639,810 		JBrowse link
G SMIM14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,875,253...33,967,498
Ensembl chr 4:39,731,488...39,819,160 		JBrowse link
G TLR1 toll like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366 		JBrowse link
G TLR10 toll like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,100,588...33,111,750
Ensembl chr 4:38,955,660...38,958,095 		JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490 		JBrowse link
G TMEM156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,294,287...33,360,117
Ensembl chr 4:39,149,096...39,214,112 		JBrowse link
G UBE2K ubiquitin conjugating enzyme E2 K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,026,942...34,111,923
Ensembl chr 4:39,877,966...39,960,397 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,580,755...35,592,314
Ensembl chr 4:41,428,759...41,440,129 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:33,827,532...33,856,204
Ensembl chr 4:39,681,300...39,708,215 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		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 chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753 		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 chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753 		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: Hypomyelinating leukodystrophy 4 OMIM
ClinVar		 PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959 		JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chr10:74,496,121...74,550,054 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 chr2A:44,463,474...44,876,680
Ensembl chr2A:45,398,350...45,808,747 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr2A:44,254,168...44,325,132
Ensembl chr2A:45,230,001...45,262,587 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr2A:44,417,735...44,463,542
Ensembl chr2A:45,353,326...45,397,903 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr2A:44,371,328...44,419,611
Ensembl chr2A:45,307,885...45,355,386 		JBrowse link
isolated mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C23H22orf15 chromosome 23 C22orf15 homolog ISO ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance ClinVar PMID:28492532 NCBI chr22:4,518,199...4,521,631
Ensembl chr22:22,604,096...22,606,948 		JBrowse link
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 chr22:4,521,604...4,523,740 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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972 		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, 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 ClinVar
OMIM		 PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994 		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 chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382 		JBrowse link
G EPHX1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:25741868 NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705 		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 chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036 		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:41,474,569...41,486,986
Ensembl chr  X:49,327,145...49,338,613 		JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345 		JBrowse link
G RP1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:28492532 NCBI chr 8:50,979,412...51,311,431
Ensembl chr 8:48,419,033...48,583,879
Ensembl chr 8:48,419,033...48,583,879 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:12601034 PMID:15293270 RGD:8158101 RGD:8158104 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G TP53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 OMIM
ClinVar		 PMID:25741868 PMID:28031252 NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705 		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: Leber optic atrophy, susceptibility to ClinVar PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... Ensembl chr 7:80,835,722...80,836,402 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO OMIM NCBI chr  X:41,474,569...41,486,986
Ensembl chr  X:49,327,145...49,338,613 		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 chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO MouseDO NCBI chr  X:41,474,569...41,486,986
Ensembl chr  X:49,327,145...49,338,613 		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 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313 		JBrowse link
G ATP5PO ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:35621276 NCBI chr21:20,270,442...20,282,865 JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr2B:124,554,478...124,644,482 JBrowse link
G CUTC cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr10:96,349,218...96,373,147
Ensembl chr10:99,841,237...99,864,633 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,170,361...108,189,498 JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25393721 PMID:25741868 PMID:28492532 PMID:32677908 PMID:33139125 More... Ensembl chr10:134,278,388...134,289,308 JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28777931 NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		JBrowse link
G ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr10:96,276,454...96,323,287
Ensembl chr10:99,768,566...99,813,568 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841 		JBrowse link
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:31944455 NCBI chr2B:93,999,837...94,030,683
Ensembl chr2B:212,129,283...212,154,329 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 More... NCBI chr 6:96,717,103...96,790,932
Ensembl chr 6:100,599,390...100,661,249 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25130867 PMID:25741868 PMID:28492532 NCBI chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554 		JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,481,811...106,482,817 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:23665194 PMID:23814038 PMID:25741868 More... NCBI chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762 		JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 More... NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100988585 transmembrane protein 220 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520 		JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9545407 PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 More... NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		JBrowse link
G LOC100993532 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 More... NCBI chr10:96,328,841...96,349,655
Ensembl chr10:99,820,763...99,841,554 		JBrowse link
G LOC100994627 ficolin-2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992 		JBrowse link
G LOC100994951 ficolin-1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111 		JBrowse link
G LOC100995944 translational activator of cytochrome c oxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr17:57,680,741...57,688,235
Ensembl chr17:62,827,083...62,833,925 		JBrowse link
G LOXL3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr2A:74,598,870...74,622,502
Ensembl chr2A:76,105,957...76,128,495 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:43,975,949...44,083,846
Ensembl chr2A:44,914,578...45,021,434 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:8602753 PMID:25741868 PMID:37133451 NCBI chr21:12,027,383...12,052,370
Ensembl chr21:25,388,661...25,410,490 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793 PMID:25741868 PMID:28777931 NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658 		JBrowse link
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:35141356 NCBI chr12:92,557,630...92,594,947
Ensembl chr12:95,953,491...95,989,618 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,010,029...136,012,373 JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:4,766,608...4,811,871
Ensembl chr12:4,687,250...4,725,669 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:22644603 PMID:25326635 More... NCBI chr 5:52,843,931...53,053,671 JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25326635 PMID:25356970 More... NCBI chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:25741916 More... NCBI chr 8:91,514,809...91,693,044
Ensembl chr 8:93,843,617...93,877,475 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy		 ClinVar PMID:9463323 PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 More... NCBI chr 5:60,344,363...60,467,008
Ensembl chr 5:61,966,124...62,088,375 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... Ensembl chr19:1,357,389...1,369,539 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 More... NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,669,550...106,681,918 JBrowse link
G PARL presenilin associated rhomboid like ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036 		JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,620,368...106,629,655 JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		JBrowse link
G PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr10:94,992,579...95,030,476
Ensembl chr10:98,493,430...98,525,836 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,218,338...104,269,322
Ensembl chr 9:132,832,924...132,865,901 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:17298551 More...
G SDHC succinate dehydrogenase complex subunit C ISO OMIM:256000 MouseDO NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 ISO Necrotising encephalopathy, subacute, of Leigh OMIA PMID:8844603 PMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 More... NCBI chr2B:114,925,990...114,957,841
Ensembl chr2B:233,736,050...233,764,514 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		JBrowse link
G SOD2 superoxide dismutase 2 ISO OMIM:220111 | OMIM:256000 MouseDO NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 3:116,621,164...116,646,776
Ensembl chr 3:123,533,675...123,559,348 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:28492532 NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889 		JBrowse link
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396 		JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 NCBI chr  X:11,984,867...12,137,090
Ensembl chr  X:19,346,814...19,518,249 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:1293379 PMID:3034892 PMID:9671272 PMID:20002461 PMID:21846590 More... NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166 		JBrowse link
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPL centromere protein L ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ClinVar NCBI chr 1:149,317,149...149,342,267
Ensembl chr 1:153,020,837...153,045,866 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17384640 PMID:17576681 PMID:19592391 More... NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461 		JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25022261 PMID:25326637 PMID:25741868 NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25637381 PMID:25741868 PMID:28492532 PMID:31042466 NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786 		JBrowse link
G LIPT1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency OMIM
ClinVar		 PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chr2A:100,136,392...100,144,665 JBrowse link
G MITD1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 More... NCBI chr2A:100,116,263...100,130,580
Ensembl chr2A:100,097,758...100,111,589 		JBrowse link
MELAS 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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: MELAS syndrome ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
MERRF 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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
Mitochondrial Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXN frataxin treatment ISO associated with Friedreich ataxia RGD PMID:24705334 RGD:401793714 NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031 		JBrowse link
G GATB glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr 4:144,005,127...144,095,552
Ensembl chr 4:155,657,600...155,747,679 		JBrowse link
G GATC glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr12:118,028,042...118,045,403
Ensembl chr12:121,402,532...121,419,628 		JBrowse link
G QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:26741492 PMID:30283131 NCBI chr 6:104,444,646...104,481,732
Ensembl chr 6:108,315,270...108,353,505 		JBrowse link
mitochondrial complex I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:16199547 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 More... NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO OMIM:252010 MouseDO NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20818383 PMID:25741868 PMID:28492532 NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:16199547 PMID:20929961 PMID:21057504 PMID:22499348 PMID:25721401 More... NCBI chr 3:125,971,881...126,061,778 JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296 		JBrowse link
G ELAC2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency ClinVar PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 NCBI chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789 		JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893 		JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915 		JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:28492532 NCBI chr 5:2,129,176...2,132,142
Ensembl chr 5:1,851,883...1,852,194 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 PMID:25058219 PMID:25741868 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741868 More... NCBI chr 6:71,282,988...71,325,075
Ensembl chr 6:74,570,890...74,612,567 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency ClinVar PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 More... NCBI chr  X:108,935,315...108,940,237
Ensembl chr  X:119,330,105...119,334,963 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,912,557...4,925,203
Ensembl chr19:5,843,085...5,854,797 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,010,029...136,012,373 JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 More... NCBI chr 5:52,843,931...53,053,671 JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:19463981 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:18179882 PMID:25741868 PMID:28492532 NCBI chr 6:94,723,579...94,732,163
Ensembl chr 6:98,609,110...98,619,089 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency ClinVar PMID:18940309 PMID:21607760 PMID:23536703 PMID:25326635 PMID:25356970 More... NCBI chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 NCBI chr16:742,402...744,850
Ensembl chr16:2,048,550...2,051,005 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:39,579,460...39,582,462
Ensembl chr  X:47,437,573...47,440,578 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:22277967 PMID:22499348 PMID:25741868 PMID:26467025 PMID:27091925 More... NCBI chr2B:88,329,424...88,343,180
Ensembl chr2B:206,487,905...206,501,709 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:9536098 PMID:17576681 PMID:20818383 PMID:20819849 PMID:22200994 More... NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:10944442 PMID:15269216 PMID:16213125 PMID:19364667 PMID:22033105 More... NCBI chr 5:60,344,363...60,467,008
Ensembl chr 5:61,966,124...62,088,375 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 Ensembl chr19:1,357,389...1,369,539 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 More... NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:20818383 PMID:21681106 PMID:22072591 PMID:23553477 PMID:23828044 More... NCBI chr14:12,338,341...12,628,346 JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... NCBI chr 6:149,222,867...149,268,725
Ensembl chr 6:153,919,641...153,965,134 		JBrowse link
G SERAC1 serine active site containing 1 ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 NCBI chr 6:156,009,815...156,067,675
Ensembl chr 6:158,068,838...158,126,603 		JBrowse link
G SLC25A10 solute carrier family 25 member 10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:29211846 NCBI chr17:76,171,759...76,180,484
Ensembl chr17:81,875,710...81,882,106 		JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727 		JBrowse link
mitochondrial complex II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency ClinVar PMID:1492653 PMID:7550341 PMID:9536098 PMID:11423010 PMID:15989954 More...
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Succinate CoQ reductase deficiency ClinVar PMID:25741868 PMID:26642834 PMID:26749241 PMID:28492532 PMID:33162331 NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency ClinVar PMID:17634472 PMID:22972948 PMID:25741868 PMID:26642834 PMID:26925370 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
Mitochondrial Complex II Deficiency Nuclear Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 OMIM
ClinVar		 PMID:1492653 PMID:2674654 PMID:7550341 PMID:8967754 PMID:9536098 More...
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:26642834 PMID:26749241 PMID:28492532 PMID:29517769 More... NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:17634472 PMID:22972948 PMID:25741868 PMID:26642834 PMID:26925370 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
Mitochondrial Complex II Deficiency Nuclear Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:12112045 PMID:16737791 PMID:19465911 PMID:22995659 PMID:25741868 More... NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568 		JBrowse link
Mitochondrial Complex II Deficiency Nuclear Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 OMIM
ClinVar		 PMID:11897817 PMID:14500403 PMID:16314641 PMID:16912137 PMID:17200167 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
mitochondrial complex III deficiency nuclear type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:16,750,102...16,780,867
Ensembl chr16:22,263,433...22,294,137 		JBrowse link
G LOC100982351 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:33,270,785...33,284,931
Ensembl chr 6:34,379,212...34,393,373 		JBrowse link
G LOC100985683 cytochrome b-c1 complex subunit 7 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 ClinVar PMID:12709789 PMID:25446085 PMID:28492532 PMID:28604960 NCBI chr 8:92,856,055...92,860,697
Ensembl chr 8:95,053,170...95,058,311 		JBrowse link
G LOC100987427 cytochrome b-c1 complex subunit 8 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 ClinVar NCBI chr 5:128,283,869...128,285,010
Ensembl chr 5:134,442,883...134,444,020 		JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		JBrowse link
G LOC100995886 cytochrome c1, heme protein, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:140,861,432...140,863,900
Ensembl chr 8:143,853,354...143,855,847 		JBrowse link
G LOC134731237 ubiquinol-cytochrome-c reductase complex assembly factor 3 ISO CTD Direct Evidence: marker/mechanism CTD
G LYRM7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 ClinVar PMID:25741868 PMID:36757047 NCBI chr 5:126,599,521...126,629,796
Ensembl chr 5:132,767,112...132,797,409 		JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 ClinVar NCBI chr17:34,934,452...35,121,195 JBrowse link
G TTC19 tetratricopeptide repeat domain 19 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 ClinVar NCBI chr17:34,902,211...34,931,963 JBrowse link
Mitochondrial Complex III Deficiency Nuclear Type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar		 PMID:25741868 PMID:31883641 NCBI chr19:26,139,335...26,145,231
Ensembl chr19:34,905,765...34,911,712 		JBrowse link
Mitochondrial Complex III Deficiency Nuclear Type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100984974 cytochrome b-c1 complex subunit 6, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 11 OMIM
ClinVar		 PMID:34750991 NCBI chr 1:45,606,924...45,619,811
Ensembl chr 1:46,961,538...46,975,055 		JBrowse link
mitochondrial complex III deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCOR1 nuclear receptor corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 ClinVar NCBI chr17:34,934,452...35,121,195 JBrowse link
G TTC19 tetratricopeptide repeat domain 19 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21278747 PMID:23532514 PMID:24368687 More... NCBI chr17:34,902,211...34,931,963 JBrowse link
mitochondrial complex III deficiency nuclear type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100985683 cytochrome b-c1 complex subunit 7 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 3 OMIM
ClinVar		 PMID:25741868 NCBI chr 8:92,856,055...92,860,697
Ensembl chr 8:95,053,170...95,058,311 		JBrowse link
mitochondrial complex III deficiency nuclear type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100987427 cytochrome b-c1 complex subunit 8 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 4 OMIM
ClinVar		 PMID:18439546 PMID:25741868 PMID:28492532 NCBI chr 5:128,283,869...128,285,010
Ensembl chr 5:134,442,883...134,444,020 		JBrowse link
mitochondrial complex III deficiency nuclear type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 OMIM
ClinVar		 PMID:23281071 PMID:25741868 PMID:28275242 PMID:28492532 NCBI chr16:16,750,102...16,780,867
Ensembl chr16:22,263,433...22,294,137 		JBrowse link
G PDZD9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 ClinVar PMID:23281071 PMID:25741868 PMID:28275242 PMID:28492532 NCBI chr16:16,731,845...16,775,963
Ensembl chr16:22,294,635...22,311,852 		JBrowse link
mitochondrial complex III deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100995886 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 6 OMIM
ClinVar		 PMID:23910460 PMID:25741868 PMID:28492532 NCBI chr 8:140,861,432...140,863,900
Ensembl chr 8:143,853,354...143,855,847 		JBrowse link
mitochondrial complex III deficiency nuclear type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100982351 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 7 OMIM
ClinVar		 PMID:24385928 PMID:25741868 PMID:28492532 NCBI chr 6:33,270,785...33,284,931
Ensembl chr 6:34,379,212...34,393,373 		JBrowse link
mitochondrial complex III deficiency nuclear type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LYRM7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 8 OMIM
ClinVar		 PMID:24014394 PMID:25741868 PMID:26912632 PMID:28492532 PMID:34919756 More... NCBI chr 5:126,599,521...126,629,796
Ensembl chr 5:132,767,112...132,797,409 		JBrowse link
mitochondrial complex III deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBHD1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 ClinVar PMID:25008109 PMID:25741868 PMID:28492532
G LOC134731237 ubiquinol-cytochrome-c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 OMIM
ClinVar		 PMID:25008109 PMID:25741868 PMID:28492532
mitochondrial complex IV deficiency nuclear type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972703 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:32,578,126...32,588,684
Ensembl chr19:41,314,020...41,324,489 		JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:22669974 PMID:23814038 PMID:24100867 PMID:25741868 More... NCBI chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762 		JBrowse link
G LOC100983451 surfeit locus protein 1 ISO OMIM NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr19:6,919,469...6,921,359 JBrowse link
G LOC100988585 transmembrane protein 220 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520 		JBrowse link
G LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30656193 More... NCBI chr 1:220,432,447...220,440,416
Ensembl chr 1:225,812,621...225,820,925 		JBrowse link
G LOC100994669 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 PMID:25741868 PMID:28492532 NCBI chr14:84,189,323...84,217,230
Ensembl chr14:104,000,692...104,027,230 		JBrowse link
G LOC100995944 translational activator of cytochrome c oxidase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr17:57,680,741...57,688,235
Ensembl chr17:62,827,083...62,833,925 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 More... NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:30,772,088...30,776,618 JBrowse link
mitochondrial complex IV deficiency nuclear type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100981933 cytochrome c oxidase assembly protein COX14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar		 PMID:22243966 PMID:25741868 PMID:28492532 NCBI chr12:38,635,386...38,643,804 JBrowse link
mitochondrial complex IV deficiency nuclear type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23125284 PMID:24202787 PMID:25741868 More... NCBI chr 1:220,432,447...220,440,416
Ensembl chr 1:225,812,621...225,820,925 		JBrowse link
mitochondrial complex IV deficiency nuclear type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 More... NCBI chr19:6,919,469...6,921,359 JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 ClinVar PMID:9536098 PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 More... NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		JBrowse link
mitochondrial complex IV deficiency nuclear type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100973340 cytochrome c oxidase assembly factor 6 homolog ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chr 1:209,913,610...209,914,929
Ensembl chr 1:214,934,998...214,944,496 		JBrowse link
mitochondrial complex IV deficiency nuclear type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970874 cytochrome c oxidase assembly factor 3 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 OMIM
ClinVar		 PMID:28492532 NCBI chr17:14,519,214...14,520,292
Ensembl chr17:14,744,405...14,745,490 		JBrowse link
mitochondrial complex IV deficiency nuclear type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103783322 cytochrome c oxidase subunit 8A, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:59,331,536...59,333,496
Ensembl chr11:62,679,993...62,681,978 		JBrowse link
mitochondrial complex IV deficiency nuclear type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100969890 cytochrome c oxidase subunit 4 isoform 1, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31290619 NCBI chr16:66,467,259...66,474,652
Ensembl chr16:85,805,611...85,812,851 		JBrowse link
mitochondrial complex IV deficiency nuclear type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352 		JBrowse link
G BAG5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:84,182,879...84,189,180
Ensembl chr14:103,997,524...103,998,927 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,551,870...83,679,888
Ensembl chr14:103,367,060...103,451,989 		JBrowse link
G CKB creatine kinase B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:84,145,931...84,149,093 JBrowse link
G EIF5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,960,299...83,969,352
Ensembl chr14:103,773,309...103,783,403 		JBrowse link
G EXOC3L4 exocyst complex component 3 like 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,716,816...83,732,656
Ensembl chr14:103,535,510...103,545,316 		JBrowse link
G LBHD2 LBH domain containing 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,705,828...83,712,039
Ensembl chr14:103,521,713...103,525,567 		JBrowse link
G LOC100994669 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 OMIM
ClinVar		 PMID:25175347 PMID:25741868 PMID:28492532 PMID:29577824 PMID:30724636 NCBI chr14:84,189,323...84,217,230
Ensembl chr14:104,000,692...104,027,230 		JBrowse link
G MARK3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:84,012,076...84,130,136
Ensembl chr14:103,823,900...103,941,529 		JBrowse link
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,209,992...83,346,783 JBrowse link
G TNFAIP2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309 		JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:83,392,689...83,530,974
Ensembl chr14:103,263,440...103,340,670 		JBrowse link
G TRMT61A tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr14:84,151,067...84,167,111
Ensembl chr14:103,966,755...103,974,697 		JBrowse link
mitochondrial complex IV deficiency nuclear type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100974033 cytochrome c oxidase subunit 6A2, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:25741868 PMID:31155743 NCBI chr16:23,537,864...23,538,675 JBrowse link
mitochondrial complex IV deficiency nuclear type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 ClinVar PMID:25741868 PMID:28386624 NCBI chr20:18,106,400...18,152,231
Ensembl chr20:18,082,402...18,128,470 		JBrowse link
G LOC103784797 protein PET117 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 OMIM
ClinVar		 PMID:25741868 PMID:28386624 NCBI chr20:18,102,060...18,107,357
Ensembl chr20:18,078,074...18,083,346 		JBrowse link
mitochondrial complex IV deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100967703 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2A:100,703,400...100,712,514
Ensembl chr2A:99,507,711...99,516,814 		JBrowse link
G LOC100973340 cytochrome c oxidase assembly factor 6 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:209,913,610...209,914,929
Ensembl chr 1:214,934,998...214,944,496 		JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G LOC100993532 cytochrome c oxidase assembly protein COX15 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:96,328,841...96,349,655
Ensembl chr10:99,820,763...99,841,554 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:30,772,088...30,776,618 JBrowse link
mitochondrial complex IV deficiency nuclear type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 OMIM
ClinVar		 PMID:28247525 PMID:35246835 NCBI chr15:53,860,721...53,878,699 JBrowse link
mitochondrial complex IV deficiency nuclear type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA4 NDUFA4 mitochondrial complex associated ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 OMIM
ClinVar		 PMID:25741868 NCBI chr 7:11,585,054...11,591,775 JBrowse link
mitochondrial complex IV deficiency nuclear type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103787041 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 OMIM
ClinVar		 PMID:33169484 NCBI chr14:50,918,444...50,952,390
Ensembl chr14:69,788,841...69,822,480 		JBrowse link
mitochondrial complex IV deficiency nuclear type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100976343 cytochrome c oxidase assembly protein COX11, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 OMIM
ClinVar		 PMID:36030551 PMID:38068960 NCBI chr17:49,009,099...49,058,145
Ensembl chr17:53,915,841...53,923,431 		JBrowse link
mitochondrial complex IV deficiency nuclear type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 OMIM
ClinVar		 PMID:10767350 PMID:12928484 PMID:15455402 PMID:22669974 PMID:23665194 More... NCBI chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762 		JBrowse link
mitochondrial complex IV deficiency nuclear type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988585 transmembrane protein 220 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 OMIM
ClinVar		 PMID:11013136 PMID:11118289 PMID:16520371 PMID:17182746 PMID:19295170 More... NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520 		JBrowse link
mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100993532 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chr10:96,328,841...96,349,655
Ensembl chr10:99,820,763...99,841,554 		JBrowse link
mitochondrial complex IV deficiency nuclear type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972703 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:32,578,126...32,588,684
Ensembl chr19:41,314,020...41,324,489 		JBrowse link
mitochondrial complex IV deficiency nuclear type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100995944 translational activator of cytochrome c oxidase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 OMIM
ClinVar		 PMID:16199547 PMID:19503089 PMID:20727754 PMID:25044680 PMID:25741868 More... NCBI chr17:57,680,741...57,688,235
Ensembl chr17:62,827,083...62,833,925 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100967703 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chr2A:100,703,400...100,712,514
Ensembl chr2A:99,507,711...99,516,814 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type ClinVar PMID:18953340 PMID:20335238 PMID:20920610 PMID:21147908 PMID:24033266 More... NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 OMIM
ClinVar		 PMID:14757859 PMID:16199547 PMID:25741868 PMID:28492532 PMID:34440436 NCBI chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 8:70,768,560...70,855,068
Ensembl chr 8:72,413,794...72,505,309 		JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:21147908 PMID:28492532 NCBI chr 8:70,525,058...70,567,839
Ensembl chr 8:72,169,986...72,207,372 		JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 OMIM
ClinVar		 PMID:1895334 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18953340 More... NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex ClinVar PMID:29478781
G ATP5F1E ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 OMIM
ClinVar		 PMID:20566710 PMID:34954817 NCBI chr20:55,379,615...55,383,316
Ensembl chr20:56,740,739...56,744,431 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 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: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ClinVar PMID:23599390 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A 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: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:28492532 PMID:34483339 PMID:34954817 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1A ATP synthase F1 subunit alpha ISO OMIM NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29478781
mitochondrial complex V (ATP synthase) deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MK ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 OMIM
ClinVar		 PMID:25741868 PMID:29917077 NCBI chr10:99,986,940...99,994,447
Ensembl chr10:103,447,873...103,455,044 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5PO ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 OMIM
ClinVar		 PMID:25741868 PMID:34954817 PMID:35621276 NCBI chr21:20,270,442...20,282,865 JBrowse link
mitochondrial DNA depletion syndrome 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: Mitochondrial DNA depletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:23993193 PMID:24033266 PMID:25741868 PMID:27099744 PMID:27290639 More... NCBI chr 6:96,717,103...96,790,932
Ensembl chr 6:100,599,390...100,661,249 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:9536098 PMID:16582910 PMID:16909392 PMID:17576681 PMID:18261905 More... NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:2067633 PMID:2504279 PMID:2725645 PMID:11431686 PMID:11897778 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:25741868 NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:84,476,814...84,512,920
Ensembl chr2A:86,035,723...86,066,622 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:12655576 PMID:12682338 PMID:15907288 PMID:16199547 PMID:16504786 More... NCBI chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:25741868 PMID:28492532 PMID:35982159 NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		JBrowse link
mitochondrial DNA depletion syndrome 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: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12177387 More... NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition OMIM
ClinVar		 PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12084896 More... NCBI chr22:30,772,088...30,776,618 JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 OMIM
ClinVar		 PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739 NCBI chr20:17,928,751...17,950,907
Ensembl chr20:17,907,241...17,929,214 		JBrowse link
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ClinVar PMID:21415153 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 More... NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:27693233 PMID:28492532 PMID:32827528 NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
mitochondrial DNA depletion syndrome 12b 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: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM
ClinVar		 PMID:7609449 PMID:8479824 PMID:9207786 PMID:16155110 PMID:21549803 More... NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM
ClinVar		 PMID:16199547 PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 More... NCBI chr 6:96,717,103...96,790,932
Ensembl chr 6:100,599,390...100,661,249 		JBrowse link
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) ClinVar
OMIM		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 More... NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) OMIM
ClinVar		 PMID:25741868 PMID:27448789 PMID:28492532 NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972 		JBrowse link
mitochondrial DNA depletion syndrome 16 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: Mitochondrial DNA depletion syndrome 16 (hepatic type) ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503 		JBrowse link
mitochondrial DNA depletion syndrome 16B 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: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503 		JBrowse link
mitochondrial DNA depletion syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRM2 mitochondrial rRNA methyltransferase 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 17 OMIM
ClinVar		 PMID:28973171 PMID:36002240 NCBI chr 7:2,503,688...2,511,660
Ensembl chr 7:2,605,371...2,613,125 		JBrowse link
mitochondrial DNA depletion syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31028354 NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633 		JBrowse link
mitochondrial DNA depletion syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A10 solute carrier family 25 member 10 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 OMIM
ClinVar		 PMID:25741868 PMID:29211846 NCBI chr17:76,171,759...76,180,484
Ensembl chr17:81,875,710...81,882,106 		JBrowse link
mitochondrial DNA depletion syndrome 2 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: Mitochondrial DNA depletion syndrome 2 | ClinVar Annotator: match by term: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form OMIM
ClinVar		 PMID:16504786 PMID:23963299 PMID:24033266 PMID:25446393 PMID:25741868 More... NCBI chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315 		JBrowse link
mitochondrial DNA depletion syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIG3 DNA ligase 3 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type) OMIM
ClinVar		 PMID:25741868 PMID:33855352 PMID:34165507 NCBI chr17:21,776,483...21,805,706
Ensembl chr17:22,074,046...22,095,220 		JBrowse link
mitochondrial DNA depletion syndrome 3 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: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral OMIM
ClinVar		 PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 More... NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO OMIM:251880 MouseDO NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
mitochondrial DNA depletion syndrome 4B 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: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr13:29,383,318...29,412,018 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM
ClinVar		 PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 More... NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138 		JBrowse link
mitochondrial DNA depletion syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) OMIM
ClinVar		 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17694548 PMID:18261905 More... NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090 		JBrowse link
G TRIM54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr2A:27,281,950...27,309,495
Ensembl chr2A:27,370,903...27,397,214 		JBrowse link
G UCN urocortin ISO ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ClinVar PMID:23714749 PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr2A:27,309,458...27,311,268
Ensembl chr2A:27,397,295...27,397,669 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr10:3,135,895...3,171,235
Ensembl chr10:3,148,758...3,184,120 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 More... NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		JBrowse link
mitochondrial DNA depletion syndrome 8A 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease		 OMIM
ClinVar		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:30,772,088...30,776,618 JBrowse link
mitochondrial DNA depletion syndrome 8b 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: Mitochondrial DNA depletion syndrome 8B (MNGIE type) OMIM
ClinVar		 PMID:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		JBrowse link
G TYMP thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr22:30,772,088...30,776,618 JBrowse link
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17287286 PMID:17576681 PMID:17668387 More... NCBI chr2A:84,476,814...84,512,920
Ensembl chr2A:86,035,723...86,066,622 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 ClinVar NCBI chr 3:67,277,348...67,563,181
Ensembl chr 3:68,647,738...68,931,891 		JBrowse link
Mitochondrial DNA Depletion Syndrome, MNGIE Type 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: Myoneurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:30,772,088...30,776,618 JBrowse link
Mitochondrial DNA Depletion Syndrome, Myopathic Form 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: Mitochondrial DNA depletion syndrome, myopathic form ClinVar PMID:1734306 PMID:9536098 PMID:11687801 PMID:12391347 PMID:12493767 More... NCBI chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315 		JBrowse link
mitochondrial encephalomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase ISO protein:decreased expression:heart (mouse) RGD PMID:23255162 RGD:10402107 NCBI chr16:19,229,649...19,242,131
Ensembl chr16:19,172,135...19,184,158 		JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 More... NCBI chr 6:96,717,103...96,790,932
Ensembl chr 6:100,599,390...100,661,249 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20858599 NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 PMID:23345593 NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667 		JBrowse link
G MFF mitochondrial fission factor ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:25558065 NCBI chr2B:114,569,893...114,602,158
Ensembl chr2B:233,381,466...233,413,778 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO CTD Direct Evidence: marker/mechanism CTD PMID:20598281 NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:mutations:cds:p.N846S, p.P587L(human) RGD PMID:12825077 RGD:8694177 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G SLIRP SRA stem-loop interacting RNA binding protein ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar NCBI chr14:58,262,126...58,271,829
Ensembl chr14:77,462,875...77,516,882 		JBrowse link
G TMEM70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239 		JBrowse link
G TYMP thymidine phosphorylase ISO mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A RGD PMID:9924029 RGD:1601000 NCBI chr22:30,772,088...30,776,618 JBrowse link
Mitochondrial Encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 PMID:30190335 NCBI chr19:36,578,969...36,589,598
Ensembl chr19:45,126,266...45,135,984 		JBrowse link
mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK2 aarF domain containing kinase 2 ISO OMIM:251900 MouseDO NCBI chr 7:132,605,620...132,627,786
Ensembl chr 7:145,078,335...145,100,739 		JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr2A:44,463,474...44,876,680
Ensembl chr2A:45,398,350...45,808,747 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO mRNA:increased expression:muscle: RGD PMID:23107834 RGD:8694159 NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829 		JBrowse link
G FDX2 ferredoxin 2 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies OMIM
ClinVar		 PMID:24281368 PMID:25741868 PMID:28492532 PMID:30010796 NCBI chr19:9,860,316...9,866,442
Ensembl chr19:10,526,287...10,532,152 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28430790 PMID:28492532 More... NCBI chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994 		JBrowse link
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial ISO OMIM:251900 MouseDO NCBI chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:28492532 NCBI chr12:129,583,040...129,598,328
Ensembl chr12:134,011,932...134,027,160 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17486094 PMID:19138848 NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 NCBI chr19:18,501,567...18,550,368
Ensembl chr19:19,504,325...19,553,158 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:28492532 PMID:29783828 PMID:33013660 PMID:35289132 NCBI chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G VDAC1 voltage dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr 5:129,375,267...129,408,230
Ensembl chr 5:135,529,173...135,560,005 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA8 patatin like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis OMIM
ClinVar		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 7:100,456,096...100,511,836
Ensembl chr 7:113,177,202...113,230,799 		JBrowse link
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988711 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28544275 PMID:28554942 PMID:29339779 More... NCBI chr 1:131,079,871...131,084,486 JBrowse link
Mitochondrial Myopathy, Lethal Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMU tRNA mitochondrial 2-thiouridylase ISO DNA:mutations:multiple RGD PMID:23625533 RGD:21066346 Ensembl chr22:45,399,506...45,421,439 JBrowse link
Mitochondrial Phosphate Carrier Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A3 solute carrier family 25 member 3 ISO ClinVar Annotator: match by term: Mitochondrial phosphate carrier deficiency OMIM
ClinVar		 PMID:9536098 PMID:17273968 PMID:17576681 PMID:21763135 PMID:25681081 More... NCBI chr12:96,173,350...96,181,400
Ensembl chr12:99,588,949...99,597,027 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPC1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 NCBI chr 6:164,331,604...164,349,747 JBrowse link
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: ECHS1-related condition | ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25125611 PMID:25393721 PMID:25741868 More... Ensembl chr10:134,278,388...134,289,308 JBrowse link
multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDND2 claudin domain containing 2 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr19:48,301,853...48,304,251
Ensembl chr19:57,187,820...57,189,721 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:1430199 PMID:1882842 PMID:9334218 PMID:9536098 PMID:12486872 More... NCBI chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta ISO ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:7912128 PMID:9350306 PMID:9536098 PMID:12706375 PMID:12815589 More... NCBI chr19:48,281,101...48,301,527
Ensembl chr19:57,166,829...57,175,582 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:3126856 PMID:7173260 PMID:7757062 PMID:9536098 PMID:12359134 More... NCBI chr 4:150,992,123...151,028,698
Ensembl chr 4:162,802,917...162,838,807 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:25741868 PMID:27259049 PMID:28492532 PMID:30982706 PMID:31392824 NCBI chr 1:130,331,795...130,341,279
Ensembl chr 1:133,941,665...133,950,399 		JBrowse link
G IGLON5 IgLON family member 5 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr19:48,247,569...48,266,797
Ensembl chr19:57,144,191...57,150,796 		JBrowse link
G LIM2 lens intrinsic membrane protein 2 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr19:48,315,028...48,323,144
Ensembl chr19:57,200,260...57,208,354 		JBrowse link
G LOC100983058 myeloid cell surface antigen CD33 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr19:48,161,860...48,176,824
Ensembl chr19:57,049,009...57,063,958 		JBrowse link
G MADD MAP kinase activating death domain ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ClinVar PMID:25741868 PMID:32761064 NCBI chr11:47,216,006...47,276,422
Ensembl chr11:47,773,733...47,828,360 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Glutaric acidemia type 2 ClinVar PMID:21437237 PMID:25326637 PMID:25503501 PMID:25741868 PMID:26467025 More... NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		JBrowse link
G NKG7 natural killer cell granule protein 7 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr19:48,306,714...48,307,961
Ensembl chr19:57,192,788...57,193,882 		JBrowse link
G SIGLECL1 SIGLEC family like 1 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr19:48,200,978...48,206,643
Ensembl chr19:57,088,147...57,092,665 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar PMID:25326637 PMID:25741868 NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856 		JBrowse link
G VSIG10L V-set and immunoglobulin domain containing 10 like ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr19:48,267,467...48,278,591
Ensembl chr19:57,154,627...57,163,742 		JBrowse link
multiple mitochondrial dysfunctions syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:203,566,902...203,577,857 JBrowse link
G ISCA1 iron-sulfur cluster assembly 1 ISO ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome ClinVar PMID:25741868 PMID:28356563 PMID:30105122 PMID:31580634 NCBI chr 9:57,410,328...57,428,477
Ensembl chr 9:85,467,145...85,485,107 		JBrowse link
G ISCA2 iron-sulfur cluster assembly 2 ISO ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome ClinVar PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29122497 More... NCBI chr14:55,046,821...55,048,602
Ensembl chr14:73,894,694...73,896,444 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold ISO ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome ClinVar PMID:28492532 NCBI chr2A:69,438,979...69,480,470
Ensembl chr2A:70,559,872...70,600,301 		JBrowse link
multiple mitochondrial dysfunctions syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFU1 NFU1 iron-sulfur cluster scaffold ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 | ClinVar Annotator: match by term: NFU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11156534 PMID:16199547 PMID:17576681 PMID:21944046 More... NCBI chr2A:69,438,979...69,480,470
Ensembl chr2A:70,559,872...70,600,301 		JBrowse link
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BOLA3 bolA family member 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 OMIM
ClinVar		 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 More... NCBI chr2A:74,207,111...74,219,705
Ensembl chr2A:75,715,161...75,727,622 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar NCBI chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701 		JBrowse link
multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105 		JBrowse link
G C1H1orf35 chromosome 1 C1orf35 homolog ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,502,917...203,505,504 JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,551,556...203,561,702 JBrowse link
G GUK1 guanylate kinase 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,541,866...203,550,827
Ensembl chr 1:208,753,657...208,765,857 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23462291 PMID:24033266 More... NCBI chr 1:203,566,902...203,577,857 JBrowse link
G MRPL55 mitochondrial ribosomal protein L55 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,508,861...203,511,486
Ensembl chr 1:208,720,030...208,722,668 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,605,558...203,781,491
Ensembl chr 1:208,825,607...208,992,246 		JBrowse link
G WNT3A Wnt family member 3A ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr 1:203,409,294...203,463,214
Ensembl chr 1:208,628,706...208,674,469 		JBrowse link
multiple mitochondrial dysfunctions syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ISCA2 iron-sulfur cluster assembly 2 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4 OMIM
ClinVar		 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28803783 More... NCBI chr14:55,046,821...55,048,602
Ensembl chr14:73,894,694...73,896,444 		JBrowse link
multiple mitochondrial dysfunctions syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ISCA1 iron-sulfur cluster assembly 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28356563 PMID:29767723 PMID:30105122 PMID:30113620 More... NCBI chr 9:57,410,328...57,428,477
Ensembl chr 9:85,467,145...85,485,107 		JBrowse link
multiple mitochondrial dysfunctions syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMPCB peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 6 | ClinVar Annotator: match by term: PMPCB-related mitochondrial disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29576218 NCBI chr 7:95,288,747...95,320,294
Ensembl chr 7:108,033,235...108,050,302 		JBrowse link
Multiple Mitochondrial Dysfunctions Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 7 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:33890291 PMID:36190515 NCBI chr16:61,688,959...61,702,364 JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:129,583,040...129,598,328
Ensembl chr12:134,011,932...134,027,160 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition OMIM
ClinVar		 PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More... NCBI chr12:129,583,040...129,598,328
Ensembl chr12:134,011,932...134,027,160 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar		 PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026 		JBrowse link
nuclear type mitochondrial complex I deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 More... NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar Ensembl chr19:1,371,312...1,375,461 JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 5:2,129,176...2,132,142
Ensembl chr 5:1,851,883...1,852,194 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,912,557...4,925,203
Ensembl chr19:5,843,085...5,854,797 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,010,029...136,012,373 JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 More... NCBI chr 5:52,843,931...53,053,671 JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:94,723,579...94,732,163
Ensembl chr 6:98,609,110...98,619,089 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29261183 PMID:30473481 NCBI chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:39,579,460...39,582,462
Ensembl chr  X:47,437,573...47,440,578 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:22200994 PMID:25741868 PMID:28031252 More... NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 OMIM
ClinVar		 PMID:9463323 PMID:10944442 PMID:11112787 PMID:11181577 PMID:12616398 More... NCBI chr 5:60,344,363...60,467,008
Ensembl chr 5:61,966,124...62,088,375 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 Ensembl chr19:1,357,389...1,369,539 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:20818383 PMID:24595071 PMID:25741868 PMID:26764160 PMID:28492532 More... NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:17576681 More... NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29982452 NCBI chr14:12,338,341...12,628,346 JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:116,621,164...116,646,776
Ensembl chr 3:123,533,675...123,559,348 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727 		JBrowse link
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:80,684,485...80,692,441 JBrowse link
nuclear type mitochondrial complex I deficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 ClinVar PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar		 PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:20818383 More... NCBI chr 5:52,843,931...53,053,671 JBrowse link
nuclear type mitochondrial complex I deficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 OMIM
ClinVar		 PMID:17557076 PMID:21931170 PMID:25741868 PMID:28492532 NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872 		JBrowse link
nuclear type mitochondrial complex I deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 More... NCBI chr  X:108,935,315...108,940,237
Ensembl chr  X:119,330,105...119,334,963 		JBrowse link
nuclear type mitochondrial complex I deficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 OMIM
ClinVar		 PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 NCBI chr 5:136,010,029...136,012,373 JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 ClinVar PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727 		JBrowse link
nuclear type mitochondrial complex I deficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18306244 PMID:25741868 PMID:28492532 More... NCBI chr19:4,912,557...4,925,203
Ensembl chr19:5,843,085...5,854,797 		JBrowse link
nuclear type mitochondrial complex I deficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28853723 NCBI chr 6:94,723,579...94,732,163
Ensembl chr 6:98,609,110...98,619,089 		JBrowse link
nuclear type mitochondrial complex I deficiency 16 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: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18940309 PMID:19542079 More... NCBI chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671 		JBrowse link
nuclear type mitochondrial complex I deficiency 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18614015 PMID:22019594 PMID:25326637 More... NCBI chr 8:91,514,809...91,693,044
Ensembl chr 8:93,843,617...93,877,475 		JBrowse link
nuclear type mitochondrial complex I deficiency 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:19463981 PMID:25741868 PMID:27986404 PMID:28492532 PMID:34656053 More... NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260 		JBrowse link
nuclear type mitochondrial complex I deficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 OMIM
ClinVar		 PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 More... NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
nuclear type mitochondrial complex I deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:9837812 PMID:15159508 PMID:20818383 PMID:22499348 PMID:23430795 More... NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101 		JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:10338090 PMID:14972327 PMID:16786517 PMID:22267502 PMID:23981774 More... NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chr 3:125,971,881...126,061,778 JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 More... NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chr 6:42,554,509...42,570,701
Ensembl chr 6:43,850,129...43,865,355 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25607374 PMID:25741868 PMID:28492532 Ensembl chr20:61,581,331...61,618,718 JBrowse link
nuclear type mitochondrial complex I deficiency 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | ClinVar Annotator: match by term: NUBPL-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20818383 PMID:22072591 More... NCBI chr14:12,338,341...12,628,346 JBrowse link
nuclear type mitochondrial complex I deficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 OMIM
ClinVar		 PMID:21150889 PMID:22972949 PMID:25741868 PMID:28247337 PMID:28492532 More... NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658 		JBrowse link
nuclear type mitochondrial complex I deficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 OMIM
ClinVar		 PMID:21617257 PMID:25741868 PMID:28454995 PMID:28492532 PMID:32341820 More... NCBI chr12:92,557,630...92,594,947
Ensembl chr12:95,953,491...95,989,618 		JBrowse link
nuclear type mitochondrial complex I deficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTSS1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 ClinVar NCBI chr 8:121,235,545...121,413,037
Ensembl chr 8:123,987,577...124,032,339 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 OMIM
ClinVar		 PMID:22200994 PMID:25741868 PMID:28492532 NCBI chr 8:121,223,857...121,234,743
Ensembl chr 8:123,975,910...123,986,781 		JBrowse link
nuclear type mitochondrial complex I deficiency 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 OMIM
ClinVar		 PMID:22277967 PMID:22499348 PMID:25741868 PMID:26467025 PMID:26795593 More... NCBI chr2B:88,329,424...88,343,180
Ensembl chr2B:206,487,905...206,501,709 		JBrowse link
nuclear type mitochondrial complex I deficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: NDUFA9-related condition OMIM
ClinVar		 PMID:22114105 PMID:25741868 PMID:28492532 PMID:28671271 NCBI chr12:4,766,608...4,811,871
Ensembl chr12:4,687,250...4,725,669 		JBrowse link
nuclear type mitochondrial complex I deficiency 27 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: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 OMIM
ClinVar		 PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612 		JBrowse link
nuclear type mitochondrial complex I deficiency 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 OMIM
ClinVar		 PMID:25741868 PMID:27290639 PMID:27374773 PMID:27374774 PMID:28492532 More... NCBI chr11:80,684,485...80,692,441 JBrowse link
nuclear type mitochondrial complex I deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 OMIM
ClinVar		 PMID:10330338 PMID:10360771 PMID:11004438 PMID:15269216 PMID:17275378 More... Ensembl chr19:1,357,389...1,369,539 JBrowse link
nuclear type mitochondrial complex I deficiency 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 OMIM
ClinVar		 PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 More... NCBI chr  X:39,579,460...39,582,462
Ensembl chr  X:47,437,573...47,440,578 		JBrowse link
nuclear type mitochondrial complex I deficiency 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28604674 PMID:33278652 PMID:33586140 More... NCBI chr 3:116,621,164...116,646,776
Ensembl chr 3:123,533,675...123,559,348 		JBrowse link
nuclear type mitochondrial complex I deficiency 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429571 NCBI chr10:97,123,826...97,129,919
Ensembl chr10:100,604,914...100,611,016 		JBrowse link
nuclear type mitochondrial complex I deficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30245030 PMID:30847515 NCBI chr22:22,978,954...22,987,979
Ensembl chr22:41,066,111...41,074,852 		JBrowse link
nuclear type mitochondrial complex I deficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 OMIM
ClinVar		 PMID:25741868 PMID:31866046 NCBI chr17:75,665,568...75,667,559 JBrowse link
nuclear type mitochondrial complex I deficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 ClinVar PMID:28040730 NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 OMIM
ClinVar		 PMID:28040730 NCBI chr16:742,402...744,850
Ensembl chr16:2,048,550...2,051,005 		JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 OMIM
ClinVar		 PMID:25741868 PMID:32969598 NCBI chr11:73,128,457...73,140,344
Ensembl chr11:76,720,094...76,763,098 		JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 OMIM
ClinVar		 PMID:25741868 PMID:32385911 PMID:33153867 NCBI chr 9:93,268,929...93,284,704
Ensembl chr 9:121,610,091...121,625,688 		JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 38 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: Leber hereditary optic neuropathy, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... Ensembl chr 7:80,835,722...80,836,402 JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39 ClinVar
OMIM		 PMID:25741868 PMID:33502047 NCBI chr19:14,129,123...14,135,129
Ensembl chr19:14,972,882...14,978,730 		JBrowse link
nuclear type mitochondrial complex I deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders | ClinVar Annotator: match by term: NDUFV1-related condition OMIM
ClinVar		 PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320 		JBrowse link
nuclear type mitochondrial complex I deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: NDUFS1-related condition OMIM
ClinVar		 PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 More... NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496 		JBrowse link
nuclear type mitochondrial complex I deficiency 6 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: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 OMIM
ClinVar		 PMID:9536098 PMID:11220739 PMID:17576681 PMID:20818383 PMID:20819849 More... NCBI chr 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705 		JBrowse link
nuclear type mitochondrial complex I deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 OMIM
ClinVar		 PMID:9570948 PMID:25741868 PMID:26008862 PMID:28492532 PMID:30369941 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884 		JBrowse link
nuclear type mitochondrial complex I deficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 OMIM
ClinVar		 PMID:9536098 PMID:14729820 PMID:17576681 PMID:22499348 PMID:25741868 More... NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863 		JBrowse link
nuclear type mitochondrial complex I deficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:2,129,176...2,132,142
Ensembl chr 5:1,851,883...1,852,194 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 OMIM
ClinVar		 PMID:9536098 PMID:15372108 PMID:16199547 PMID:17576681 PMID:19259137 More... NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711 		JBrowse link
optic atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile OMIM
ClinVar		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 More... NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr19:42,477,467...42,546,814
Ensembl chr19:51,073,322...51,130,555 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 Ensembl chr 4:6,345,864...6,379,287 JBrowse link
Parkinson's Disease, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMC1 formation of mitochondrial complex V assembly factor 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29371327 NCBI chr 7:131,289,119...131,295,330 JBrowse link
G LOC100970753 alcohol dehydrogenase 1C ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:15642852 NCBI chr 4:91,756,817...91,773,056
Ensembl chr 4:102,388,575...102,435,079 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Parkinson disease, mitochondrial ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884 		JBrowse link
Pearson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Pearson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417 		JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775 		JBrowse link
primary coenzyme Q10 deficiency 1 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, primary, 1 ClinVar NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 OMIM
ClinVar		 PMID:12682339 PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 More... NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar PMID:24033266 NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		JBrowse link
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI1 abl interactor 1 ISO ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ClinVar PMID:25741868 NCBI chr10:26,863,648...26,975,376
Ensembl chr10:27,227,960...27,339,434 		JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 | ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome OMIM
ClinVar		 PMID:17332895 PMID:22494076 PMID:25264263 PMID:25741868 PMID:28492532 More... NCBI chr10:26,811,243...26,863,594
Ensembl chr10:27,178,933...27,227,542 		JBrowse link
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17186472 PMID:17374725 PMID:17576681 PMID:19096106 More... NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055 		JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC42BPA CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr 1:202,448,571...202,780,486
Ensembl chr 1:207,438,330...207,766,907 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM
ClinVar		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		JBrowse link
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ9 coenzyme Q9 ISO ClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome OMIM
ClinVar		 PMID:16199547 PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 More... NCBI chr16:37,723,452...37,737,327
Ensembl chr16:56,856,401...56,870,260 		JBrowse link
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ6 coenzyme Q6, monooxygenase ISO ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness OMIM
ClinVar		 PMID:21540551 PMID:24140869 PMID:25741868 PMID:28044327 PMID:28117207 More... NCBI chr14:54,509,514...54,522,310
Ensembl chr14:73,363,711...73,376,545 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness ClinVar PMID:21540551 PMID:24140869 PMID:25741868 PMID:28044327 PMID:28117207 More... NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468 		JBrowse link
primary coenzyme Q10 deficiency 7 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: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,218,242...102,244,846
Ensembl chr 9:130,863,031...130,891,744 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245 		JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		JBrowse link
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688 		JBrowse link
G ASB6 ankyrin repeat and SOCS box containing 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,761,165...100,768,725
Ensembl chr 9:129,421,661...129,425,868 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661 		JBrowse link
G BBLN bublin coiled coil protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,281,258...99,284,930
Ensembl chr 9:127,951,037...127,954,779 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419 		JBrowse link
G C11H9orf78 chromosome 11 C9orf78 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,954,771...100,962,794
Ensembl chr 9:129,612,071...129,620,044 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,989,621...109,256,841 JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		JBrowse link
G CDK9 cyclin dependent kinase 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,905,468...98,909,923
Ensembl chr 9:127,580,862...127,584,935 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010 		JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,541,795...99,560,234
Ensembl chr 9:128,210,576...128,226,175 		JBrowse link
G CFAP157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,825,719...98,834,780
Ensembl chr 9:127,497,791...127,506,177 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666 		JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22368301 PMID:25658047 More... NCBI chr 9:99,444,414...99,457,281
Ensembl chr 9:128,111,957...128,124,918 		JBrowse link
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484 		JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690 		JBrowse link
G DOLK dolichol kinase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,067,512...100,069,596
Ensembl chr 9:128,731,747...128,733,363 		JBrowse link
G DOLPP1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,205,558...100,215,665
Ensembl chr 9:128,866,331...128,875,710 		JBrowse link
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,055,271...99,058,058
Ensembl chr 9:127,725,780...127,729,589 		JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,170,361...108,189,498 JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,755,972...99,780,279
Ensembl chr 9:128,423,053...128,447,387 		JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		JBrowse link
G EEIG1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,061,030...99,101,144
Ensembl chr 9:127,731,243...127,771,098 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		JBrowse link
G ENDOG endonuclease G ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,941,856...99,945,957 JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312 		JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841 		JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,380,073...102,399,992
Ensembl chr 9:131,024,410...131,042,975 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,018,681...102,058,898
Ensembl chr 9:130,668,147...130,695,731 		JBrowse link
G FNBP1 formin binding protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,014,402...101,171,302
Ensembl chr 9:129,675,132...129,780,989 		JBrowse link
G FPGS folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200 		JBrowse link
G FUBP3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,703,130...101,762,607
Ensembl chr 9:130,353,079...130,411,601 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G GLE1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,627,336...99,664,537
Ensembl chr 9:128,294,607...128,331,301 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		JBrowse link
G GOLGA2 golgin A2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,376,847...99,397,128
Ensembl chr 9:128,047,056...128,065,137 		JBrowse link
G GPR107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,181,461...101,268,679
Ensembl chr 9:129,835,175...129,915,666 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518 		JBrowse link
G HMCN2 hemicentin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,393,336...101,558,733
Ensembl chr 9:130,044,739...130,208,799 		JBrowse link
G IER5L immediate early response 5 like ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,300,931...100,303,651 JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G KYAT1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,956,240...100,004,366
Ensembl chr 9:128,623,946...128,637,844 		JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292 		JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		JBrowse link
G LCN2 lipocalin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,481,811...106,482,817 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100994627 ficolin-2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992 		JBrowse link
G LOC100994951 ficolin-1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111 		JBrowse link
G LOC100994982 uncharacterized LOC100994982 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,734,183...100,747,299 JBrowse link
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,003,969...100,039,859
Ensembl chr 9:128,670,292...128,705,466 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071 		JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,982,174...103,199,512
Ensembl chr 9:131,619,441...131,835,951 		JBrowse link
G MIGA2 mitoguardin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,160,068...100,197,095
Ensembl chr 9:128,820,773...128,856,977 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,631,543...108,632,733 JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,181,980...99,188,002
Ensembl chr 9:127,853,002...127,859,049 		JBrowse link
G NCS1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,299,724...101,364,897
Ensembl chr 9:129,950,921...130,016,257 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716 		JBrowse link
G NELFB negative elongation factor complex member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,358,959...108,361,586 JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990 		JBrowse link
G NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,752,741...100,762,164
Ensembl chr 9:129,410,048...129,420,092 		JBrowse link
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107 		JBrowse link
G NUP188 nucleoporin 188 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,069,656...100,130,521
Ensembl chr 9:128,733,780...128,791,252 		JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305 		JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117 		JBrowse link
G ODF2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,577,891...99,623,581
Ensembl chr 9:128,245,049...128,291,202 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,669,550...106,681,918 JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,042,756...100,063,998
Ensembl chr 9:128,708,254...128,728,092 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,041,687...99,051,031
Ensembl chr 9:127,712,944...127,722,332 		JBrowse link
G PKN3 protein kinase N3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,825,546...99,844,582
Ensembl chr 9:128,493,251...128,510,476 		JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,411,095...102,431,146
Ensembl chr 9:131,055,406...131,073,474 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,620,368...106,629,655 JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,786,052...101,803,287 JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,516,585...102,622,588
Ensembl chr 9:131,193,641...131,262,894 		JBrowse link
G PRRX2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,792,324...100,849,923 JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		JBrowse link
G PTGES prostaglandin E synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020 		JBrowse link
G PTGES2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,241,257...99,249,022
Ensembl chr 9:127,912,363...127,918,036 		JBrowse link
G PTPA protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,236,607...100,274,273
Ensembl chr 9:128,896,584...128,934,651 		JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,813,010...98,835,732
Ensembl chr 9:127,484,509...127,507,753 		JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,008,900...102,013,194
Ensembl chr 9:130,659,140...130,659,550 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,218,338...104,269,322
Ensembl chr 9:132,832,924...132,865,901 		JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413 		JBrowse link
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550 		JBrowse link
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,806,876...99,819,825
Ensembl chr 9:128,473,806...128,484,563 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		JBrowse link
G SH2D3C SH2 domain containing 3C ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,858,018...98,899,661
Ensembl chr 9:127,530,733...127,571,016 		JBrowse link
G SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,131,458...100,151,869
Ensembl chr 9:128,791,948...128,806,578 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,188,906...99,229,771
Ensembl chr 9:127,859,948...127,900,922 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686 		JBrowse link
G SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,945,345...99,953,692
Ensembl chr 9:128,613,437...128,620,450 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971 		JBrowse link
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,027,846...99,037,025
Ensembl chr 9:127,699,013...127,708,515 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,005,336...99,025,296
Ensembl chr 9:127,677,841...127,697,880 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302 		JBrowse link
G SWI5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,396,439...99,410,054
Ensembl chr 9:128,064,569...128,078,380 		JBrowse link
G TBC1D13 TBC1 domain family member 13 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,910,685...99,933,856
Ensembl chr 9:128,576,246...128,597,979 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683 		JBrowse link
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		JBrowse link
G TOR1A torsin family 1 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,940,554...100,951,726 JBrowse link
G TOR1B torsin family 1 member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,930,714...100,938,891
Ensembl chr 9:129,588,325...129,596,287 		JBrowse link
G TOR2A torsin family 2 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,851,255...98,855,086
Ensembl chr 9:127,523,547...127,527,403 		JBrowse link
G TOR4A torsin family 4 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,251,235...108,261,541 JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,427,032...99,444,440
Ensembl chr 9:128,098,221...128,111,909 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:25741868 PMID:28215400 PMID:28492532 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,834,850...98,851,253
Ensembl chr 9:127,506,866...127,523,545 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660 		JBrowse link
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,646,056...102,653,525
Ensembl chr 9:131,285,877...131,293,338 		JBrowse link
G URM1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,492,453...99,513,046
Ensembl chr 9:128,160,984...128,179,700 		JBrowse link
G USP20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,962,851...101,009,326
Ensembl chr 9:129,621,642...129,666,713 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889 		JBrowse link
G ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,844,535...99,847,806
Ensembl chr 9:128,510,739...128,514,004 		JBrowse link
G ZER1 zyg-11 related cell cycle regulator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,853,433...99,895,399
Ensembl chr 9:128,519,972...128,560,098 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871 		JBrowse link
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase ISO ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 OMIM
ClinVar		 PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 More... NCBI chr16:19,229,649...19,242,131
Ensembl chr16:19,172,135...19,184,158 		JBrowse link
primary coenzyme Q10 deficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ5 coenzyme Q5, methyltransferase ISO ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 OMIM
ClinVar		 PMID:25741868 PMID:29044765 NCBI chr12:118,085,605...118,112,591
Ensembl chr12:121,459,102...121,486,657 		JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 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: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 More... NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		JBrowse link
pyruvate carboxylase deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRFN4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency ClinVar PMID:12112657 PMID:19306334 PMID:25741868 PMID:28492532 NCBI chr11:62,214,340...62,217,742
Ensembl chr11:65,536,427...65,539,629 		JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Pyruvate carboxylase deficiency OMIM
ClinVar		 PMID:9536098 PMID:9585002 PMID:9585612 PMID:12112657 PMID:16199547 More... NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396 		JBrowse link
pyruvate decarboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency ClinVar PMID:25741868 NCBI chr  X:11,984,867...12,137,090
Ensembl chr  X:19,346,814...19,518,249 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency OMIM
ClinVar		 PMID:1293379 PMID:1301207 PMID:1338114 PMID:1779625 PMID:1909778 More... NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:58,359,753...58,366,094
Ensembl chr 3:59,776,618...59,782,411 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166 		JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO Pyruvate dehydrogenase deficiency OMIA PMID:516334 PMID:552740 PMID:7361423 PMID:15049576 PMID:17095275 NCBI chr 8:90,541,269...90,550,554
Ensembl chr 8:92,486,271...92,494,714 		JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:11,610,278...11,747,059
Ensembl chr  X:18,973,638...19,054,159 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 NCBI chr  X:11,984,867...12,137,090
Ensembl chr  X:19,346,814...19,518,249 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:11,513,747...11,605,382
Ensembl chr  X:18,877,476...18,968,730 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:11,311,905...11,448,676
Ensembl chr  X:18,675,714...18,812,412 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315 		JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD6 abhydrolase domain containing 6, acylglycerol lipase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:58,172,334...58,227,531
Ensembl chr 3:59,586,573...59,641,824 		JBrowse link
G ACOX2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:58,442,532...58,474,601
Ensembl chr 3:59,852,771...59,884,548 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,161,299...57,206,672
Ensembl chr 3:58,370,430...58,415,258 		JBrowse link
G ARF4 ADP ribosylation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,504,701...57,530,545
Ensembl chr 3:58,710,897...58,736,816 		JBrowse link
G ASB14 ankyrin repeat and SOCS box containing 14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,209,408...57,225,472
Ensembl chr 3:58,418,243...58,434,409 		JBrowse link
G DENND6A DENN domain containing 6A ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,558,551...57,627,298
Ensembl chr 3:58,978,866...59,046,737 		JBrowse link
G DNAH12 dynein axonemal heavy chain 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,226,665...57,478,575
Ensembl chr 3:58,435,528...58,683,585 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:58,127,491...58,146,177
Ensembl chr 3:59,542,243...59,560,363 		JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989 		JBrowse link
G HESX1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,131,419...57,161,205
Ensembl chr 3:58,341,965...58,370,347 		JBrowse link
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409 		JBrowse link
G KCTD6 potassium channel tetramerization domain containing 6 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:58,365,847...58,439,763
Ensembl chr 3:59,840,170...59,850,009 		JBrowse link
G PDE12 phosphodiesterase 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,489,602...57,502,240
Ensembl chr 3:58,696,083...58,699,719 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency OMIM
ClinVar		 PMID:9536098 PMID:15138885 PMID:16199547 PMID:17576681 PMID:18164639 More... NCBI chr 3:58,359,753...58,366,094
Ensembl chr 3:59,776,618...59,782,411 		JBrowse link
G PXK PX domain containing serine/threonine kinase like ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:58,265,626...58,358,247
Ensembl chr 3:59,711,749...59,773,556 		JBrowse link
G RPP14 ribonuclease P/MRP subunit p14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:58,239,048...58,252,810
Ensembl chr 3:59,653,220...59,666,531
Ensembl chr 3:59,653,220...59,666,531 		JBrowse link
G SLMAP sarcolemma associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr 3:57,688,669...57,864,355
Ensembl chr 3:59,108,247...59,280,713 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		JBrowse link
G BCO2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,056,525...107,105,358
Ensembl chr11:110,899,703...110,942,547 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589 		JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 More... NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795 		JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946 		JBrowse link
G HSPB2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893 		JBrowse link
G IL18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338 		JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996 		JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,107,114...107,114,594
Ensembl chr11:110,949,708...110,957,599 		JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543 		JBrowse link
G TEX12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,048,417...107,053,655
Ensembl chr11:110,817,016...110,896,829 		JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980 		JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APIP APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar NCBI chr11:34,855,437...34,889,486
Ensembl chr11:34,730,671...34,764,732 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency OMIM
ClinVar		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166 		JBrowse link
sarcosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of OMIM
ClinVar		 PMID:22825317 PMID:25741868 PMID:28492532 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642 		JBrowse link
Sengers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGK acylglycerol kinase ISO ClinVar Annotator: match by term: Sengers syndrome OMIM
ClinVar		 PMID:3560758 PMID:9536098 PMID:15168109 PMID:16199547 PMID:17576681 More... NCBI chr 7:133,438,436...133,580,423
Ensembl chr 7:145,948,154...146,050,512 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 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: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr 3:63,995,566...64,347,679
Ensembl chr 3:65,377,760...65,723,662 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 ClinVar PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		JBrowse link
Spinocerebellar Ataxia with Epilepsy 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: Spinocerebellar ataxia with epilepsy ClinVar PMID:632821 PMID:1582434 PMID:11431686 PMID:11571332 PMID:12565911 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
Subacute Necrotizing Encephalopathy of Leigh, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5PO ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35621276 NCBI chr21:20,270,442...20,282,865 JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25130867 PMID:25741868 PMID:28492532 NCBI chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554 		JBrowse link
G LOC100980340 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:23665194 PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762 		JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:2933018 PMID:10443880 PMID:22488715 PMID:24027061 PMID:24462369 More... NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100988585 transmembrane protein 220 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520 		JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 PMID:19162478 More... NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856 		JBrowse link
G LOC100993532 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:96,328,841...96,349,655
Ensembl chr10:99,820,763...99,841,554 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:43,975,949...44,083,846
Ensembl chr2A:44,914,578...45,021,434 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:127,204,900...127,269,478
Ensembl chr2B:246,022,168...246,087,658 		JBrowse link
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35141356 NCBI chr12:92,557,630...92,594,947
Ensembl chr12:95,953,491...95,989,618 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:25326635 PMID:25741868 More... NCBI chr 5:52,843,931...53,053,671 JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:25741916 More... NCBI chr 8:91,514,809...91,693,044
Ensembl chr 8:93,843,617...93,877,475 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 NCBI chr 5:60,344,363...60,467,008
Ensembl chr 5:61,966,124...62,088,375 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... Ensembl chr19:1,357,389...1,369,539 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 More... NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:17298551 More...
very long chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADL acyl-CoA dehydrogenase long chain ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: VLCAD deficiency | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:609575 PMID:2006090 PMID:2951924 PMID:4022672 PMID:7479827 More... NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417 		JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,370,732...7,385,730
Ensembl chr17:7,356,893...7,371,844 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941 		JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,203,387...7,209,602
Ensembl chr17:7,191,076...7,196,992 		JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,131,490...7,145,110
Ensembl chr17:7,119,432...7,133,520 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834 		JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129 		JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,053,841...7,061,523
Ensembl chr17:7,042,775...7,046,741 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,467,811...43,470,061
Ensembl chr17:48,200,155...48,201,228 		JBrowse link
G C19H17orf100 chromosome 19 C17orf100 homolog ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532
G C19H17orf49 chromosome 19 C17orf49 homolog ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,045,486...7,048,370
Ensembl chr17:7,033,360...7,036,634 		JBrowse link
G CD68 CD68 molecule ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,479,056...7,490,314
Ensembl chr17:7,465,229...7,476,099 		JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,289,766...7,292,433
Ensembl chr17:7,277,313...7,281,859 		JBrowse link
G CLEC10A C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,104,887...7,111,883
Ensembl chr17:7,092,968...7,097,462 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,967,297...7,983,743
Ensembl chr17:7,953,660...7,970,148 		JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537 		JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,273,460...7,281,158
Ensembl chr17:7,260,803...7,269,003 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:16199547 PMID:23169530 PMID:23480858 More... NCBI chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,746,731...7,867,426
Ensembl chr17:7,739,573...7,853,752 		JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9839948 PMID:9973285 PMID:10077518 PMID:11590124 PMID:14517516 More... NCBI chr17:7,255,241...7,264,452
Ensembl chr17:7,242,493...7,251,571 		JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,737,297...7,743,732
Ensembl chr17:7,724,983...7,731,270 		JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,604,331...7,610,302
Ensembl chr17:7,590,569...7,596,876 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,341,076...7,346,570
Ensembl chr17:7,327,363...7,333,270 		JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,281,571...7,289,800 JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:6,806,312...6,818,183
Ensembl chr17:6,795,514...6,806,969 		JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,472,262...7,478,927
Ensembl chr17:7,459,880...7,465,105 		JBrowse link
G FXR2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,622,855...7,646,340
Ensembl chr17:7,609,736...7,631,758 		JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,270,316...7,272,365
Ensembl chr17:7,257,659...7,260,276 		JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,346,766...7,349,682
Ensembl chr17:7,333,571...7,335,871 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065 		JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,530,919...43,537,999 JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,956,961...7,965,450
Ensembl chr17:7,943,403...7,951,477 		JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,386,148...7,389,198
Ensembl chr17:7,373,315...7,374,013 		JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937 		JBrowse link
G KIAA0753 KIAA0753 ortholog ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:6,615,903...6,678,233
Ensembl chr17:6,603,983...6,662,083 		JBrowse link
G LOC100970954 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,892,814...7,897,251
Ensembl chr17:7,879,163...7,883,719 		JBrowse link
G LOC100971127 arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,609,146...43,619,713
Ensembl chr17:48,340,777...48,350,808 		JBrowse link
G LOC100995017 XIAP-associated factor 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:6,785,040...6,806,177
Ensembl chr17:6,774,951...6,794,947 		JBrowse link
G MED31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:6,681,675...6,689,115
Ensembl chr17:6,669,582...6,676,882 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,615,281...7,619,831
Ensembl chr17:7,601,561...7,610,378 		JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932 		JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,349,739...7,363,419
Ensembl chr17:7,336,447...7,349,473 		JBrowse link
G NLGN2 neuroligin 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,438,853...7,454,014 JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,502,080...43,518,098
Ensembl chr17:48,234,360...48,250,391 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720 		JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,264,944...7,269,549
Ensembl chr17:7,252,024...7,256,756 		JBrowse link
G PIMREG PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:6,482,837...6,489,480
Ensembl chr17:6,471,520...6,478,156 		JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379 		JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,423,903...7,429,026
Ensembl chr17:7,410,668...7,414,409 		JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,516,940...7,546,989
Ensembl chr17:7,502,807...7,532,521 		JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,369,556...43,371,025
Ensembl chr17:48,101,744...48,103,394 		JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,043,269...7,045,379
Ensembl chr17:7,031,283...7,033,393 		JBrowse link
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,657,166...7,658,773
Ensembl chr17:7,643,490...7,645,127 		JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,593,904...7,603,538
Ensembl chr17:7,580,106...7,589,838 		JBrowse link
G SHBG sex hormone binding globulin ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683 		JBrowse link
G SLC16A11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,072,436...7,075,242 JBrowse link
G SLC16A13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,066,765...7,071,082
Ensembl chr17:7,055,038...7,059,170 		JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,364,198...43,369,582
Ensembl chr17:48,096,764...48,102,215 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344 		JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,513,826...7,516,477 JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,619,804...7,621,791
Ensembl chr17:7,606,086...7,608,632 		JBrowse link
G SPEM1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,454,453...7,455,791
Ensembl chr17:7,441,032...7,442,342 		JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,458,605...7,461,545
Ensembl chr17:7,449,092...7,453,041
Ensembl chr17:7,449,092...7,453,041 		JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:6,830,517...6,862,596
Ensembl chr17:6,819,230...6,851,014 		JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,469,096...7,471,645
Ensembl chr17:7,455,716...7,457,947 		JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,481,043...43,485,189
Ensembl chr17:48,214,392...48,217,773 		JBrowse link
G TMEM256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,437,147...7,438,323
Ensembl chr17:7,423,655...7,424,798 		JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,889,870...7,891,032
Ensembl chr17:7,876,294...7,877,517 		JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,389,244...7,391,773
Ensembl chr17:7,375,571...7,377,086 		JBrowse link
G TNFSF12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,581,163...7,589,809
Ensembl chr17:7,567,766...7,575,575 		JBrowse link
G TNFSF13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834 		JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,403,403...7,423,942
Ensembl chr17:7,403,209...7,409,366 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,965,454...7,967,172
Ensembl chr17:7,951,885...7,953,365 		JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:6,678,375...6,680,902
Ensembl chr17:6,666,067...6,668,475 		JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:43,495,464...43,499,348
Ensembl chr17:48,228,253...48,231,948 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394 		JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,319,186...7,325,594
Ensembl chr17:7,306,548...7,312,632 		JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency ClinVar PMID:9973285 PMID:11590124 PMID:28492532 NCBI chr17:7,491,971...7,516,823
Ensembl chr17:7,477,848...7,497,062 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr 4:95,251,920...95,313,404
Ensembl chr 4:105,954,880...105,975,142 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        mitochondrial metabolism disease 808
          Bjornstad syndrome 1
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
          Childhood Myocerebrohepatopathy Spectrum 1
          Cowden-Like Syndrome 0
          Deoxyguanosine Kinase Deficiency 4
          Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission + 5
          Friedreich ataxia + 2
          GRACILE syndrome 1
          HMG-CoA synthase 2 deficiency 2
          HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 1
          Hypermetabolism due to Defect in Mitochondria 1
          Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
          Leber hereditary optic neuropathy + 16
          Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 2
          Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
          Mitochondrial Cardiomyopathy 4
          Mitochondrial Cytopathy + 110
          Mitochondrial Phosphate Carrier Deficiency 1
          Myopathy with Giant Abnormal Mitochondria 0
          Myopathy, Cataract, Hypogonadism Syndrome 0
          Noninsulin-Dependent Diabetes Mellitus with Deafness 0
          Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
          Parkinson's Disease, Mitochondrial 3
          Pearson syndrome 1
          Progressive External Ophthalmoplegia with Hypogonadism 0
          Proximal Myopathy with Focal Depletion of Mitochondria 0
          Spinocerebellar Ataxia with Epilepsy 1
          Succinate-Coa Ligase Deficiency + 2
          VDAC Deficiency 0
          Wolfram syndrome 2 2
          adult-onset ataxia and polyneuropathy 0
          carbamoyl phosphate synthetase I deficiency disease 1
          coenzyme Q10 deficiency disease + 219
          combined oxidative phosphorylation deficiency + 71
          cytochrome-c oxidase deficiency disease + 214
          deafness-dystonia-optic neuronopathy syndrome 2
          developmental and epileptic encephalopathy 39 1
          ethylmalonic encephalopathy 39
          hypomyelinating leukodystrophy 4 2
          hypotonia-cystinuria syndrome 4
          mitochondrial DNA depletion syndrome + 42
          mitochondrial complex I deficiency + 66
          mitochondrial complex II deficiency + 3
          mitochondrial complex III deficiency + 14
          mitochondrial complex V (ATP synthase) deficiency + 10
          mitochondrial pyruvate carrier deficiency 1
          multiple acyl-CoA dehydrogenase deficiency + 14
          multiple mitochondrial dysfunctions syndrome + 15
          optic atrophy 1 3
          pyruvate carboxylase deficiency disease + 2
          pyruvate decarboxylase deficiency + 53
          sarcosinemia 1
          sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6
          very long chain acyl-CoA dehydrogenase deficiency 86
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5521
            mitochondrial metabolism disease 808
              Bjornstad syndrome 1
              Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
              Childhood Myocerebrohepatopathy Spectrum 1
              Cowden-Like Syndrome 0
              Deoxyguanosine Kinase Deficiency 4
              Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission + 5
              Friedreich ataxia + 2
              GRACILE syndrome 1
              HMG-CoA synthase 2 deficiency 2
              HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 1
              Hypermetabolism due to Defect in Mitochondria 1
              Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
              Leber hereditary optic neuropathy + 16
              Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 2
              Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
              Mitochondrial Cardiomyopathy 4
              Mitochondrial Cytopathy + 110
              Mitochondrial Phosphate Carrier Deficiency 1
              Myopathy with Giant Abnormal Mitochondria 0
              Myopathy, Cataract, Hypogonadism Syndrome 0
              Noninsulin-Dependent Diabetes Mellitus with Deafness 0
              Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
              Parkinson's Disease, Mitochondrial 3
              Pearson syndrome 1
              Progressive External Ophthalmoplegia with Hypogonadism 0
              Proximal Myopathy with Focal Depletion of Mitochondria 0
              Spinocerebellar Ataxia with Epilepsy 1
              Succinate-Coa Ligase Deficiency + 2
              VDAC Deficiency 0
              Wolfram syndrome 2 2
              adult-onset ataxia and polyneuropathy 0
              carbamoyl phosphate synthetase I deficiency disease 1
              coenzyme Q10 deficiency disease + 219
              combined oxidative phosphorylation deficiency + 71
              cytochrome-c oxidase deficiency disease + 214
              deafness-dystonia-optic neuronopathy syndrome 2
              developmental and epileptic encephalopathy 39 1
              ethylmalonic encephalopathy 39
              hypomyelinating leukodystrophy 4 2
              hypotonia-cystinuria syndrome 4
              mitochondrial DNA depletion syndrome + 42
              mitochondrial complex I deficiency + 66
              mitochondrial complex II deficiency + 3
              mitochondrial complex III deficiency + 14
              mitochondrial complex V (ATP synthase) deficiency + 10
              mitochondrial pyruvate carrier deficiency 1
              multiple acyl-CoA dehydrogenase deficiency + 14
              multiple mitochondrial dysfunctions syndrome + 15
              optic atrophy 1 3
              pyruvate carboxylase deficiency disease + 2
              pyruvate decarboxylase deficiency + 53
              sarcosinemia 1
              sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6
              very long chain acyl-CoA dehydrogenase deficiency 86
paths to the root