|
G |
Coa3 |
cytochrome C oxidase assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25604084 |
|
NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178
|
|
G |
Coa8 |
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 chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISS ISO |
OMIM:220110 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 |
MouseDO ClinVar |
PMID:9536098 PMID:12928484 PMID:17576681 PMID:23814038 PMID:25741868 PMID:28492532 PMID:32313153 More...
|
|
NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
G |
Cox18 |
cytochrome c oxidase assembly factor COX18 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:17,864,581...17,877,483
Ensembl chr14:17,865,857...17,877,480
|
|
G |
Cox20 |
cytochrome c oxidase assembly factor COX20 |
|
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 PMID:32827528 PMID:32999401 More...
|
|
NCBI chr13:90,065,900...90,075,386
|
|
G |
Cox6b1 |
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 chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001 Ensembl chr 2:85,875,109...85,884,001
|
|
G |
Cox8a |
cytochrome c oxidase subunit 8A |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25741868 PMID:26685157 |
|
NCBI chr 1:204,402,118...204,404,439
|
|
G |
Cutc |
cutC copper transporter |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
|
|
NCBI chr 1:242,622,281...242,637,048
Ensembl chr 1:242,622,276...242,637,047
|
|
G |
Entpd7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
|
|
NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447
|
|
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 PMID:28492532 More...
|
|
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
|
|
G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
|
RGD |
PMID:12529507 |
RGD:1600676 |
NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
|
|
G |
Mrpl44 |
mitochondrial ribosomal protein L44 |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Cytochrome c oxidase I deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:9832034 PMID:10441567 PMID:12140182 PMID:16284789 |
|
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 |
|
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:8630495 PMID:9634511 PMID:11063732 PMID:12414820 PMID:25741868 |
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
|
ISO |
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 PMID:32461654 More...
|
|
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
|
|
G |
Pet100 |
PET100 cytochrome c oxidase chaperone |
|
ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 |
|
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
|
|
G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
|
ISS ISO |
OMIM:220110 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 |
MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 |
|
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
|
|
G |
Stxbp2 |
syntaxin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 |
|
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
CTD ClinVar |
PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:10647889 PMID:10746561 PMID:11317352 PMID:12515039 PMID:12943968 PMID:15214016 PMID:16199547 PMID:16326995 PMID:16542579 PMID:17576681 PMID:19780766 PMID:20624914 PMID:21937992 PMID:22488715 PMID:23829769 PMID:24027061 PMID:24462369 PMID:25111564 PMID:25741868 PMID:27756633 PMID:27896082 PMID:28492532 PMID:28639102 PMID:29933018 PMID:30872186 PMID:32445240 PMID:33134083 PMID:34302356 PMID:35693685 More...
|
|
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Taco1 |
translational activator of cytochrome c oxidase I |
|
ISO |
CTD Direct Evidence: marker/mechanism 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 |
CTD ClinVar |
PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 |
|
NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
|
|
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 chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
|
|
|
G |
Acat2 |
acetyl-CoA acetyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
|
|
G |
Agpat4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,525,131...48,633,798
Ensembl chr 1:48,527,323...48,633,345
|
|
G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
|
|
G |
Dynlt1 |
dynein light chain Tctex-type 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
|
|
G |
Ezr |
ezrin |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
|
|
G |
Fndc1 |
fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
|
|
G |
Gtf2h5 |
general transcription factor IIH subunit 5 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
|
|
G |
Igf2r |
insulin-like growth factor 2 receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
|
|
G |
Map3k4 |
mitogen activated protein kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358
|
|
G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
|
|
G |
Mrpl18 |
mitochondrial ribosomal protein L18 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,837,169...47,841,987
Ensembl chr 1:47,836,561...47,841,987
|
|
G |
Plg |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
|
|
G |
Pnldc1 |
PARN like ribonuclease domain containing exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Rsph3 |
radial spoke head 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
|
|
G |
Serac1 |
serine active site containing 1 |
|
ISO ISS |
OMIM:614739 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 More...
|
|
NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
|
|
G |
Slc22a1 |
solute carrier family 22 member 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
|
|
G |
Slc22a2 |
solute carrier family 22 member 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
|
|
G |
Slc22a3 |
solute carrier family 22 member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Sytl3 |
synaptotagmin-like 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
|
|
G |
Tagap |
T-cell activation RhoGTPase activating protein |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
|
|
G |
Tcp1 |
t-complex 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839
|
|
G |
Tmem181 |
transmembrane protein 181 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
|
|
G |
Tulp4 |
TUB like protein 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
|
|
G |
Wtap |
WT1 associated protein |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:47,665,965...47,691,067
Ensembl chr 1:47,665,965...47,691,065
|
|
|
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 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18924171 PMID:19879173 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:34426522 PMID:34691145 More...
|
|
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
|
|
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 chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
|
|
|
G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:17576681 PMID:18414213 PMID:20200222 PMID:21266382 PMID:21437181 PMID:22494076 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26510951 PMID:26741492 PMID:27408822 PMID:27574110 PMID:28492532 PMID:29152527 PMID:31308188 PMID:32962729 PMID:33658040 PMID:34440436 More...
|
|
NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16326995 |
|
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
|
|
|
G |
Abca2 |
ATP binding cassette subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
|
|
G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
|
|
G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
|
|
G |
Adamtsl2 |
ADAMTS-like 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
|
|
G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
|
|
G |
Ajm1 |
apical junction component 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
|
|
G |
Ak8 |
adenylate kinase 8 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
|
|
G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:35621276 |
|
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
|
|
G |
Barhl1 |
BarH-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
|
|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9545407 PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18771761 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20472482 PMID:20518024 PMID:22277166 PMID:22991165 PMID:24033266 PMID:24172246 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:28492532 PMID:30582773 More...
|
|
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
|
|
G |
Brd3 |
bromodomain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
|
|
G |
C8g |
complement C8 gamma chain |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
|
|
G |
Cacfd1 |
calcium channel flower domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406
|
|
G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
|
|
G |
Card9 |
caspase recruitment domain family, member 9 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
|
|
G |
Ccdc183 |
coiled-coil domain containing 183 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
|
|
G |
Cel |
carboxyl ester lipase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
|
|
G |
Cfap77 |
cilia and flagella associated protein 77 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
|
|
G |
Clic3 |
chloride intracellular channel 3 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
|
|
G |
Col6a3 |
collagen type VI alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
|
|
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23814038 PMID:25741868 PMID:28492532 |
|
NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 PMID:33746038 PMID:15235026 More...
|
RGD:1598467 |
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
G |
Cutc |
cutC copper transporter |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
|
|
NCBI chr 1:242,622,281...242,637,048
Ensembl chr 1:242,622,276...242,637,047
|
|
G |
Dbh |
dopamine beta-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
|
|
G |
Ddx31 |
DEAD-box helicase 31 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
|
|
G |
Dipk1b |
divergent protein kinase domain 1B |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
|
|
G |
Dld |
dihydrolipoamide dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
|
|
G |
Dnlz |
DNL-type zinc finger |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
|
|
G |
Dpp7 |
dipeptidylpeptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
|
|
G |
Echs1 |
enoyl-CoA hydratase, short chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leigh syndrome |
CTD ClinVar |
PMID:25125611 PMID:25393721 PMID:25741868 PMID:26099313 PMID:28492532 PMID:32677908 PMID:33139125 PMID:33163364 More...
|
|
NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
|
|
G |
Edf1 |
endothelial differentiation-related factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
|
|
G |
Egfl7 |
EGF-like-domain, multiple 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
|
|
G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28777931 |
|
NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
|
|
G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
|
|
G |
Entpd7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
|
|
NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447
|
|
G |
Entr1 |
endosome associated trafficking regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
|
|
G |
Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
|
|
G |
Fam163b |
family with sequence similarity 163, member B |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458
|
|
G |
Fastkd2 |
FAST kinase domains 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:31944455 |
|
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
|
|
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 PMID:28492532 PMID:28940506 PMID:30804983 PMID:34052969 PMID:34056100 More...
|
|
NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443
|
|
G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
|
|
G |
Fcnb |
ficolin B |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151
|
|
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 |
PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28654958 PMID:29142257 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31589614 PMID:33613441 More...
|
|
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
|
|
G |
Fut7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
|
|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
|
|
G |
Gbgt1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,826,131...11,829,745
|
|
G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
|
|
G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
|
|
G |
Gpsm1 |
G-protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
|
|
G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
|
|
G |
Gtf3c4 |
general transcription factor IIIC subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
|
|
G |
Gtf3c5 |
general transcription factor IIIC subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
|
|
G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25130867 PMID:25741868 PMID:28492532 |
|
NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
|
|
G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
|
|
G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
|
|
G |
Lamb1 |
laminin subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
|
|
G |
Lcn1 |
lipocalin 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
|
|
G |
Lcn10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
|
|
G |
Lcn12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
|
|
G |
Lcn6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
|
|
G |
Lcn8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
|
|
G |
Lcn9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
|
|
G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
|
|
G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
Leigh syndrome French Canadian variant ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:17050673 PMID:12529507 |
RGD:1600674, RGD:1600676 |
NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
|
|
G |
Mamdc4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
|
|
G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
|
|
G |
Med22 |
mediator complex subunit 22 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836
|
|
G |
Mir126b |
microRNA 126b |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,415,087...9,415,159
|
|
G |
Mrpl39 |
mitochondrial ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125
|
|
G |
Mrps2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
|
|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:2877793 PMID:25741868 PMID:28777931 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:7668837 PMID:7726182 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 PMID:8602753 PMID:8630495 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9221962 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14697245 PMID:14998933 PMID:15120634 PMID:16049925 PMID:16050984 PMID:16217706 PMID:17123466 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18216301 PMID:18461509 PMID:18495510 PMID:18682780 PMID:19160410 PMID:19454486 PMID:19626676 PMID:19667215 PMID:19875463 PMID:20056103 PMID:20211276 PMID:20301353 PMID:22110754 PMID:22231385 PMID:22577227 PMID:22789932 PMID:22933740 PMID:23206802 PMID:23266623 PMID:23304069 PMID:24002810 PMID:24088041 PMID:24104924 PMID:24118886 PMID:24316278 PMID:24986921 PMID:25489354 PMID:25741868 PMID:26633545 PMID:26993169 PMID:27450679 PMID:28027978 PMID:29307858 PMID:29602698 PMID:30143805 PMID:31181185 PMID:31187502 PMID:31379041 PMID:31461494 PMID:32042921 PMID:32313153 PMID:32461654 PMID:32581362 PMID:32906214 PMID:35159298 More...
|
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:1757091 PMID:7633428 PMID:9243242 PMID:11062027 PMID:14697245 PMID:17101920 PMID:18682780 PMID:20207608 PMID:24153443 PMID:25741868 PMID:25941154 PMID:26993169 More...
|
|
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:9806551 PMID:9832034 PMID:10577941 PMID:11349229 PMID:12140182 PMID:13298683 PMID:15647368 PMID:16152638 PMID:17659260 PMID:19460299 PMID:20301595 PMID:21419139 PMID:22130971 PMID:22949535 PMID:24498190 PMID:24713204 PMID:25701779 PMID:25741868 PMID:26011537 PMID:26428318 PMID:26467025 PMID:30950284 PMID:32906214 More...
|
|
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:11799391 PMID:12612282 PMID:17637808 PMID:18337306 PMID:19398658 PMID:22241583 PMID:24931671 PMID:25741868 PMID:26467025 PMID:32313153 PMID:32906214 More...
|
|
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:7496173 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 PMID:11063732 PMID:15823923 PMID:16358358 PMID:17403843 PMID:18587274 PMID:20301353 PMID:23645088 PMID:25741868 PMID:30143805 More...
|
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:9806551 PMID:10329023 PMID:10453733 PMID:10894993 PMID:10960495 PMID:11047755 PMID:11891837 PMID:12150954 PMID:12905068 PMID:13298683 PMID:17003408 PMID:17637808 PMID:19062322 PMID:19555656 PMID:20301353 PMID:22241583 PMID:24667782 PMID:25741868 PMID:26566881 PMID:28027978 PMID:30143805 PMID:32906214 More...
|
|
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8104867 PMID:8496715 PMID:9299504 PMID:9806551 PMID:10519336 PMID:10520236 PMID:10521313 PMID:10704697 PMID:10976107 PMID:11238687 PMID:11854175 PMID:11938495 PMID:12160969 PMID:12406974 PMID:12610069 PMID:12756609 PMID:13298683 PMID:14681830 PMID:15342361 PMID:15465027 PMID:15466014 PMID:15720387 PMID:15883259 PMID:15896721 PMID:15972314 PMID:15977098 PMID:16050984 PMID:16738010 PMID:16807713 PMID:16828917 PMID:16849371 PMID:16895436 PMID:16949108 PMID:17454741 PMID:17517629 PMID:17535832 PMID:17620555 PMID:17637808 PMID:18216301 PMID:18502698 PMID:18504678 PMID:18691441 PMID:18977334 PMID:20211276 PMID:20301353 PMID:20643099 PMID:20978534 PMID:21129724 PMID:21144833 PMID:21296687 PMID:21364701 PMID:22079202 PMID:22241583 PMID:22780954 PMID:23246842 PMID:24063851 PMID:24146900 PMID:24153443 PMID:24986921 PMID:25741868 PMID:26262956 PMID:26428318 PMID:26467025 PMID:27177320 PMID:27343181 PMID:28187756 PMID:28708239 PMID:28821228 PMID:29330893 PMID:30143805 PMID:32906214 PMID:35383288 More...
|
|
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:1900003 PMID:11479733 PMID:11820805 PMID:12406974 PMID:15286228 PMID:16738010 PMID:18682780 PMID:19370763 PMID:20301353 PMID:25741868 PMID:28187756 PMID:29481798 PMID:30143805 More...
|
|
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
DNA:mutation ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar RGD |
PMID:6343397 PMID:11456298 PMID:12227465 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:17066297 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:20301353 PMID:25118196 PMID:25741868 PMID:30143805 PMID:14705112 More...
|
RGD:5507824 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1323207 PMID:1469456 PMID:3395302 PMID:8213827 PMID:8644732 PMID:12707444 PMID:14581685 PMID:15972314 PMID:16120329 PMID:17022785 PMID:20301353 PMID:25741868 PMID:28027978 PMID:30143805 More...
|
|
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:19394449 PMID:20643099 PMID:29444077 |
|
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
|
|
G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
DNA:mutation: exon:m.13513 G>A (D393N)(human) ClinVar Annotator: match by term: Leigh syndrome ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar RGD |
PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:9299505 PMID:10589546 PMID:11102991 PMID:11198278 PMID:11938446 PMID:12624137 PMID:14520659 PMID:14730434 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:17400793 PMID:17535832 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:20301353 PMID:21131053 PMID:22022272 PMID:22780954 PMID:23463613 PMID:25701779 PMID:25741868 PMID:27422531 PMID:29987491 PMID:30143805 PMID:32906214 PMID:18495510 More...
|
RGD:5491185 |
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
DNA:missense mutation: :m.14487T>C (p.M63V) (human) ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11241853 PMID:11781695 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14520668 PMID:14595656 PMID:14735585 PMID:15637703 PMID:15922297 PMID:15954041 PMID:16337195 PMID:16380132 PMID:18524835 PMID:18674747 PMID:19555656 PMID:20301353 PMID:21457906 PMID:21504270 PMID:21838605 PMID:24088041 PMID:25741868 PMID:26633545 PMID:29987491 PMID:30143805 PMID:32906214 PMID:35715829 PMID:20019223 More...
|
RGD:6482231 |
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
|
|
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 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30087118 PMID:30911575 More...
|
|
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
|
|
G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
|
|
G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
|
|
G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
|
|
G |
Ndufa12 |
NADH:ubiquinone oxidoreductase subunit A12 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35141356 |
|
NCBI chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315
|
|
G |
Ndufa13 |
NADH:ubiquinone oxidoreductase subunit A13 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726
|
|
G |
Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
|
|
G |
Ndufa9 |
NADH:ubiquinone oxidoreductase subunit A9 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
|
|
G |
Ndufaf2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:16200211 PMID:18180188 PMID:20818383 PMID:22644603 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 PMID:31130284 More...
|
|
NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
|
|
G |
Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 PMID:26275793 PMID:28492532 PMID:29581464 PMID:30473481 PMID:30581749 PMID:32005694 PMID:32348839 PMID:32918965 PMID:34177781 More...
|
|
NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
|
|
G |
Ndufaf6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 PMID:28639102 PMID:30642748 PMID:31665838 PMID:31967322 PMID:32348839 PMID:33097395 More...
|
|
NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951
|
|
G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
|
|
G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
DNA:missense mutation:cds:p.M292T (human) |
RGD |
PMID:20819849 |
RGD:6482269 |
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
|
|
G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
CTD ClinVar |
PMID:9536098 PMID:14729820 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 More...
|
|
NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
|
|
G |
Ndufs4 |
NADH:ubiquinone oxidoreductase subunit S4 |
|
ISO ISS |
OMIM:256000 ClinVar Annotator: match by term: Leigh syndrome CTD Direct Evidence: marker/mechanism DNA:frameshift mutation:cds:c.426delA (human) DNA:transition:intron:IVS1-1G>A (human) |
MouseDO ClinVar CTD RGD |
PMID:9463323 PMID:10944442 PMID:11112787 PMID:11181577 PMID:12616398 PMID:12944388 PMID:14765537 PMID:15269216 PMID:16213125 PMID:17383918 PMID:18804471 PMID:19107570 PMID:19364667 PMID:20818383 PMID:22033105 PMID:22200994 PMID:22326555 PMID:24020637 PMID:25741868 PMID:27079373 PMID:28492532 PMID:30634555 PMID:31292494 PMID:31386302 PMID:32860008 PMID:34849584 PMID:22535952 PMID:20534480 PMID:22653057 PMID:19107570 PMID:12616398 More...
|
RGD:6484662, RGD:12914767, RGD:12914766, RGD:6484698, RGD:6484669 |
NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846
|
|
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 PMID:15269216 PMID:17604671 PMID:20301745 PMID:25741868 PMID:26024641 PMID:28492532 PMID:30369941 More...
|
|
NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
|
|
G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
|
|
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 PMID:15576045 PMID:17576681 PMID:20818383 PMID:21364701 PMID:21696386 PMID:22644603 PMID:23334465 PMID:23562761 PMID:23631824 PMID:24642831 PMID:25615419 PMID:25741868 PMID:26024641 PMID:26345448 PMID:27126960 PMID:27344648 PMID:28492532 PMID:29353736 PMID:29948731 PMID:29976978 PMID:30090137 PMID:31589614 PMID:31665838 PMID:31687339 PMID:32123317 PMID:32348839 PMID:33083013 PMID:33258288 PMID:34134969 PMID:34716721 PMID:34807224 PMID:35482246 PMID:35586607 More...
|
|
NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
|
|
G |
Npdc1 |
neural proliferation, differentiation and control, 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
|
|
G |
Obp2a |
odorant binding protein 2A |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
|
|
G |
Obp2b |
odorant binding protein 2B |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258
|
|
G |
Olfm1 |
olfactomedin 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
|
|
G |
Paep |
progestagen associated endometrial protein |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
|
|
G |
Parl |
presenilin associated, rhomboid-like |
|
ISS |
OMIM:220111 | OMIM:256000 |
MouseDO |
|
|
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
|
|
G |
Paxx |
PAXX, non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
|
|
G |
Phpt1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,392,926...8,394,325
|
|
G |
Pierce1 |
piercer of microtubule wall 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
|
|
G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
|
|
G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
|
|
G |
Ptgds |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
|
|
G |
Pyroxd2 |
pyridine nucleotide-disulphide oxidoreductase domain 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:241,523,278...241,549,083
Ensembl chr 1:241,523,377...241,548,761
|
|
G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
|
|
G |
Rabl6 |
RAB, member RAS oncogene family-like 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
|
|
G |
Ralgds |
ral guanine nucleotide dissociation stimulator |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059
|
|
G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996
|
|
G |
Rnu6atac |
RNA, U6atac small nuclear |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946
|
|
G |
Rpl7a |
ribosomal protein L7A |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716
|
|
G |
Rxra |
retinoid X receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
|
|
G |
Sapcd2 |
suppressor APC domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
|
|
G |
Sardh |
sarcosine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
|
|
G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 |
|
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
|
|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
DNA:missense mutation:cds:p.R554W (human) ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar RGD |
PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 PMID:17298551 PMID:17376234 PMID:20484225 PMID:20489732 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22677546 PMID:22904323 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24033266 PMID:24448499 PMID:24781757 PMID:25363768 PMID:25494863 PMID:25525159 PMID:25720320 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26556299 PMID:26689913 PMID:27011036 PMID:27493882 PMID:27854218 PMID:27895137 PMID:28166811 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28714951 PMID:28724664 PMID:28819017 PMID:28873162 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30050099 PMID:30068732 PMID:30201732 PMID:30276801 PMID:30680959 PMID:30728243 PMID:30877234 PMID:31368675 PMID:31512412 PMID:31527833 PMID:31589614 PMID:31666924 PMID:31827275 PMID:32462735 PMID:32581362 PMID:33077847 PMID:33372952 PMID:33606809 PMID:33674644 PMID:33960148 PMID:34014604 PMID:34286374 PMID:35059314 PMID:7550341 More...
|
RGD:724604 |
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
|
|
G |
Sdhc |
succinate dehydrogenase complex subunit C |
|
ISS |
OMIM:256000 |
MouseDO |
|
|
NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
|
|
G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
|
|
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 PMID:25117056 PMID:33081289 PMID:34544496 More...
|
|
NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
|
|
G |
Slc2a6 |
solute carrier family 2 member 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208
|
|
G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISS |
OMIM:220111 | OMIM:256000 |
MouseDO |
|
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
|
|
G |
Spaca9 |
sperm acrosome associated 9 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
|
|
G |
Stkld1 |
serine/threonine kinase-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO ISS |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy OMIM:256000 ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10556302 PMID:10558868 PMID:10636738 PMID:10746561 PMID:11279059 PMID:11288709 PMID:11317352 PMID:11423010 PMID:12026244 PMID:12515039 PMID:12812953 PMID:12943968 PMID:14557577 PMID:15214016 PMID:16199547 PMID:16225813 PMID:16326995 PMID:16542579 PMID:16765830 PMID:16773507 PMID:17576681 PMID:17908801 PMID:18583168 PMID:19780766 PMID:20624914 PMID:20843780 PMID:21937992 PMID:22488715 PMID:22700954 PMID:23806086 PMID:23829769 PMID:24027061 PMID:24088041 PMID:24262866 PMID:24462369 PMID:25111564 PMID:25326637 PMID:25741868 PMID:26257172 PMID:26944241 PMID:27475922 PMID:27756633 PMID:27826120 PMID:27848944 PMID:27896082 PMID:28429146 PMID:28492532 PMID:28639102 PMID:29715184 PMID:29933018 PMID:30872186 PMID:31589614 PMID:31967322 PMID:32380162 PMID:32445240 PMID:33013660 PMID:33134083 PMID:34052969 PMID:34302356 PMID:34868319 PMID:34943053 PMID:9843204 More...
|
RGD:1599193 |
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Surf2 |
surfeit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077
|
|
G |
Surf4 |
surfeit 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Surf6 |
surfeit 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251
|
|
G |
Taco1 |
translational activator of cytochrome c oxidase I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19503089 |
|
NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
|
|
G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
|
|
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
|
|
G |
Timmdc1 |
translocase of inner mitochondrial membrane domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr11:62,228,990...62,259,389
Ensembl chr11:62,229,058...62,254,699
|
|
G |
Tmco6 |
transmembrane and coiled-coil domains 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843
|
|
G |
Tmem141 |
transmembrane protein 141 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
|
|
G |
Tmem250 |
transmembrane protein 250 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
|
|
G |
Traf2 |
Tnf receptor-associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
|
|
G |
Ttf1 |
transcription termination factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
|
|
G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
|
|
G |
Ubac1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
|
|
G |
Vav2 |
vav guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052
|
|
G |
Vps13d |
vacuolar protein sorting 13 homolog D |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
|
|
G |
Wdr5 |
WD repeat domain 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671
|
|
|
G |
Mypn |
myopalladin |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency |
ClinVar |
PMID:22892539 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28087566 PMID:28492532 PMID:28798025 PMID:30847666 More...
|
|
NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
|
|
|
G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency |
ClinVar |
PMID:16738010 |
|
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
|
|
G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency |
ClinVar |
PMID:9299505 PMID:10589546 PMID:11938446 PMID:12509858 PMID:12624137 PMID:12796552 PMID:14520659 PMID:14730434 PMID:15767514 PMID:16306525 PMID:16816025 PMID:17317336 PMID:17400793 PMID:18332249 PMID:25741868 More...
|
|
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency |
ClinVar |
PMID:7654063 PMID:8016139 PMID:8622678 PMID:10894222 PMID:12205655 PMID:14520668 PMID:14595656 PMID:14735585 PMID:16337195 PMID:16380132 PMID:20301353 PMID:25741868 PMID:30143805 PMID:32906214 PMID:35715829 More...
|
|
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency |
ClinVar |
PMID:12172394 PMID:17357124 PMID:17567889 PMID:17666888 PMID:19081147 PMID:19125024 PMID:19230829 PMID:19283857 PMID:19887791 PMID:20022641 PMID:20381175 PMID:20497192 PMID:20542681 PMID:21728791 PMID:23684175 PMID:24033266 PMID:24156272 PMID:24158611 PMID:25188385 PMID:28492532 PMID:29773520 PMID:30245029 PMID:30311386 PMID:31042466 PMID:31370293 PMID:33096615 More...
|
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Lipt1 |
lipoyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 PMID:25787132 PMID:27247813 PMID:28492532 PMID:31042466 PMID:33531667 PMID:34440436 PMID:35388219 More...
|
|
NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565
|
|
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 PMID:25787132 PMID:27247813 PMID:28492532 PMID:31042466 PMID:33531667 PMID:34440436 PMID:35388219 More...
|
|
NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289
|
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
DNA:point mutation: :m.9185T>C (human) CTD Direct Evidence: marker/mechanism DNA:transversion: :m.8993T>G (human) DNA:point mutation: :m.9176T>C (human) |
CTD RGD |
PMID:27129022 PMID:18461509 PMID:14598233 PMID:15709156 |
RGD:5490262, RGD:5490291, RGD:5490270 |
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
DNA:snps:cds:p.E59K, p.R159Q (human) |
RGD |
PMID:20301352 |
RGD:5148009 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
|
G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
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 PMID:26160915 PMID:28492532 More...
|
|
NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407
|
|
|
G |
Coa5 |
cytochrome C oxidase assembly factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 9:39,651,459...39,664,870
|
|
G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
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 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18804471 PMID:18924171 PMID:19353847 PMID:19879173 PMID:20159436 PMID:23345593 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:25959673 PMID:27290639 PMID:28429146 PMID:28492532 PMID:28518168 PMID:28798025 PMID:29193756 PMID:29351582 PMID:30340907 PMID:30593977 PMID:31589614 PMID:31623504 PMID:32461654 PMID:32600061 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34362006 PMID:34426522 PMID:34691145 PMID:34732400 PMID:34746378 More...
|
|
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
|
|
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 chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
|
|
|
G |
Cox15 |
cytochrome c oxidase assembly homolog COX15 |
|
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 PMID:17576681 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26940873 PMID:26959537 PMID:28492532 PMID:31102535 PMID:31967322 PMID:32232962 PMID:33746038 More...
|
|
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
|
|
|
G |
Coa5 |
cytochrome C oxidase assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
ClinVar OMIM |
PMID:21457908 |
|
NCBI chr 9:39,651,459...39,664,870
|
|
|
G |
Coa8 |
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 chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:12928484 PMID:25741868 PMID:28492532 PMID:32313153 |
|
NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
|
|
G |
Cox20 |
cytochrome c oxidase assembly factor COX20 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30656193 PMID:32827528 PMID:32999401 More...
|
|
NCBI chr13:90,065,900...90,075,386
|
|
G |
Cox6b1 |
cytochrome c oxidase subunit 6B1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001 Ensembl chr 2:85,875,109...85,884,001
|
|
G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:8630495 PMID:12414820 |
|
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
|
|
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 chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
|
|
G |
Pet100 |
PET100 cytochrome c oxidase chaperone |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 |
|
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
|
|
G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
|
|
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:32313153 |
|
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
|
|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
|
OMIM |
|
|
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Taco1 |
translational activator of cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:19503089 PMID:20727754 PMID:25741868 |
|
NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
|
|
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 chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
|
|
|
G |
Cox14 |
cytochrome c oxidase assembly factor COX14 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 |
OMIM ClinVar |
PMID:22243966 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:130,852,226...130,854,316
|
|
|
G |
Cox20 |
cytochrome c oxidase assembly factor COX20 |
|
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 PMID:28492532 PMID:30656193 PMID:31079202 PMID:32827528 PMID:32999401 PMID:33751098 PMID:36136859 More...
|
|
NCBI chr13:90,065,900...90,075,386
|
|
|
G |
Pet100 |
PET100 cytochrome c oxidase chaperone |
|
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 PMID:28492532 PMID:32313153 More...
|
|
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
|
|
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 PMID:28492532 PMID:32313153 More...
|
|
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
|
|
|
G |
Coa3 |
cytochrome C oxidase assembly factor 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178
|
|
|
G |
Cox8a |
cytochrome c oxidase subunit 8A |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:204,402,118...204,404,439
|
|
|
G |
Cox4i1 |
cytochrome c oxidase subunit 4i1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31290619 |
|
NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921
|
|
|
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 chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
|
|
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 chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970
|
|
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 chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377
|
|
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 chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
|
|
G |
Coa8 |
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 chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
|
|
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 chr 6:130,589,162...130,597,656
Ensembl chr 6:130,589,143...130,597,656
|
|
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 chr 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683
|
|
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 chr 6:130,442,388...130,447,229
Ensembl chr 6:130,442,388...130,447,229
|
|
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 chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647
|
|
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 chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
|
|
G |
Snora28l1 |
small nucleolar RNA, H/ACA box 28 like 1 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
|
NCBI chr 6:130,591,965...130,592,090
Ensembl chr 6:130,591,965...130,592,090
|
|
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 chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914
|
|
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 chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
|
|
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 chr 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243
|
|
|
G |
Cox6a2 |
cytochrome c oxidase subunit 6A2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 |
OMIM ClinVar |
PMID:25741868 PMID:31155743 |
|
NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274
|
|
|
G |
Kat14 |
lysine acetyltransferase 14 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 |
ClinVar |
PMID:25741868 PMID:28386624 |
|
NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
|
|
|
G |
Cox5a |
cytochrome c oxidase subunit 5A |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar OMIM |
PMID:28247525 |
|
NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
|
|
|
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 4:40,002,216...40,009,384
Ensembl chr 4:40,002,216...40,023,920
|
|
|
G |
Cox16 |
cytochrome c oxidase assembly factor COX16 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 |
OMIM ClinVar |
PMID:33169484 |
|
NCBI chr 6:101,162,231...101,181,277
Ensembl chr 6:101,019,680...101,181,246
|
|
|
G |
Cox11 |
cytochrome c oxidase copper chaperone COX11 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 |
ClinVar OMIM |
PMID:36030551 |
|
NCBI chr10:75,458,735...75,465,322
Ensembl chr10:75,458,749...75,465,322
|
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 |
OMIM ClinVar |
PMID:10767350 PMID:12928484 PMID:15455402 PMID:25741868 PMID:28492532 PMID:32313153 More...
|
|
NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
|
|
|
G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
|
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 PMID:23345593 PMID:23878101 PMID:24403053 PMID:25741868 PMID:28492532 PMID:29381136 More...
|
|
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
|
|
|
G |
Cox6b1 |
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 chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001 Ensembl chr 2:85,875,109...85,884,001
|
|
|
G |
Taco1 |
translational activator of cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 |
OMIM ClinVar |
PMID:19503089 PMID:20727754 PMID:25044680 PMID:25741868 PMID:28492532 |
|
NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
|
|
|
G |
Echs1 |
enoyl-CoA hydratase, short chain 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25125611 PMID:25393721 PMID:25741868 PMID:26000322 PMID:26081110 PMID:26099313 PMID:26251176 PMID:26467025 PMID:26938784 PMID:27090768 PMID:27905109 PMID:28039521 PMID:28202214 PMID:28409271 PMID:28429146 PMID:28492532 PMID:29575569 PMID:30008475 PMID:30029642 PMID:30634555 PMID:31216405 PMID:31219693 PMID:32013919 PMID:32313153 PMID:32642440 PMID:32677093 PMID:32677908 PMID:32858208 PMID:33112498 PMID:33139125 PMID:33163364 PMID:35856138 PMID:36200804 PMID:37377599 More...
|
|
NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
|
|
|
G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:35621276 |
|
NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
|
|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:22277166 PMID:24033266 PMID:25741868 PMID:25895478 PMID:28492532 More...
|
|
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
|
|
G |
Cox10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:48,630,993...48,742,805
Ensembl chr10:48,630,676...48,746,667
|
|
G |
Dld |
dihydrolipoamide dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
|
|
G |
Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
|
|
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 PMID:25678554 PMID:25741868 PMID:28492532 PMID:28654958 PMID:29142257 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31589614 PMID:33613441 More...
|
|
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
|
|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
|
|
G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25130867 PMID:25741868 PMID:28492532 |
|
NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
|
|
G |
Lamb1 |
laminin subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
|
|
G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293
|
|
G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:7668837 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9221962 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14998933 PMID:16049925 PMID:16217706 PMID:17352390 PMID:17452590 PMID:18055910 PMID:18461509 PMID:19160410 PMID:19454486 PMID:19626676 PMID:19667215 PMID:19875463 PMID:20056103 PMID:22577227 PMID:22933740 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:31187502 PMID:31379041 PMID:31461494 PMID:32042921 PMID:32313153 PMID:32906214 PMID:35159298 More...
|
|
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
|
|
G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 PMID:32906214 More...
|
|
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
|
|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:32313153 |
|
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
|
|
G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:10960495 PMID:24667782 |
|
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8496715 PMID:10976107 PMID:11854175 PMID:15342361 PMID:15720387 PMID:15883259 PMID:16738010 PMID:17620555 PMID:17637808 PMID:20301353 PMID:22079202 PMID:22241583 PMID:25741868 PMID:30143805 PMID:32906214 PMID:35383288 More...
|
|
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:11456298 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:25741868 More...
|
|
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
|
|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
|
|
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
|
|
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 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30087118 PMID:30911575 More...
|
|
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
|
|
G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
|
|
G |
Ndufa12 |
NADH:ubiquinone oxidoreductase subunit A12 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:35141356 |
|
NCBI chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315
|
|
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 PMID:26795593 PMID:28492532 PMID:31130284 More...
|
|
NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
|
|
G |
Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29581464 PMID:30473481 PMID:30581749 PMID:34177781 More...
|
|
NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
|
|
G |
Ndufaf6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 PMID:28639102 PMID:30642748 PMID:31665838 PMID:31967322 PMID:32348839 PMID:33097395 More...
|
|
NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951
|
|
G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
|
|
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 chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
|
|
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 PMID:15269216 PMID:17604671 PMID:20301745 PMID:25741868 PMID:26024641 PMID:28492532 PMID:30369941 More...
|
|
NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
|
|
G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:9837812 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
|
|
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 PMID:15576045 PMID:17576681 PMID:20818383 PMID:21364701 PMID:21696386 PMID:22644603 PMID:23334465 PMID:23562761 PMID:23631824 PMID:25615419 PMID:25741868 PMID:26024641 PMID:26345448 PMID:27126960 PMID:27344648 PMID:28492532 PMID:29353736 PMID:29948731 PMID:29976978 PMID:30090137 PMID:31589614 PMID:31665838 PMID:33083013 PMID:33258288 PMID:34134969 PMID:34716721 PMID:34807224 PMID:35482246 PMID:35586607 More...
|
|
NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
|
|
G |
Sco1 |
synthesis of cytochrome C oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
|
|
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 PMID:17376234 PMID:20484225 PMID:20489732 PMID:21858060 PMID:22677546 PMID:22904323 PMID:23666964 PMID:24033266 PMID:25363768 PMID:25741868 PMID:26467025 PMID:28384794 PMID:28492532 PMID:28546994 PMID:28714951 PMID:28724664 PMID:30201732 PMID:30680959 PMID:31527833 PMID:32462735 PMID:34014604 PMID:34286374 PMID:35059314 More...
|
|
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
|
|