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G |
CCDC56 |
coiled-coil domain containing 56 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25604084 |
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NCBI chr 9:20,223,096...20,224,178
Ensembl chr 9:20,223,096...20,224,178
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G |
COA8 |
cytochrome c oxidase assembly factor 8 |
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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 |
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NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466
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G |
COX10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:9536098 PMID:12928484 PMID:17576681 PMID:22669974 PMID:23814038 PMID:24100867 PMID:25741868 PMID:28492532 PMID:32313153 More...
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NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
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G |
COX15 |
cytochrome c oxidase assembly homolog COX15 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:28492532 |
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NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087
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G |
COX18 |
cytochrome c oxidase assembly factor COX18 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25741868 |
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NCBI chr13:61,875,507...61,888,068
Ensembl chr13:61,877,194...61,888,387
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G |
COX20 |
cytochrome c oxidase assembly factor COX20 |
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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...
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NCBI chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862
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G |
COX8A |
cytochrome c oxidase subunit VIIIA (ubiquitous) |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:25741868 PMID:26685157 |
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NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528
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G |
CUTC |
cutC copper transporter |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
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NCBI chr28:12,624,242...12,651,179
Ensembl chr28:12,624,323...12,651,153
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G |
ENTPD7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
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NCBI chr28:12,565,173...12,601,152
Ensembl chr28:12,564,727...12,600,240
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G |
FASTKD2 |
FAST kinase domains 2 |
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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...
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NCBI chr37:15,287,446...15,303,005
Ensembl chr37:15,287,672...15,302,999
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G |
LOC611528 |
protein PET100 homolog, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 PMID:32313153 More...
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NCBI chr20:52,406,154...52,412,552
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G |
LOC612644 |
cytochrome c oxidase subunit 6B1 |
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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 |
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NCBI chr 1:116,960,851...116,969,415
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G |
MRPL44 |
mitochondrial ribosomal protein L44 |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:28492532 |
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NCBI chr37:29,681,751...29,689,489
Ensembl chr37:29,681,773...29,689,489
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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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 PMID:32906214 |
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NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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G |
MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 |
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NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717
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G |
MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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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 PMID:32906214 More...
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NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
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G |
NCAPH2 |
non-SMC condensin II complex subunit H2 |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 PMID:28518168 PMID:32461654 More...
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NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824
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G |
SCO1 |
synthesis of cytochrome C oxidase 1 |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 |
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NCBI chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661
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G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
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ISO |
ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:12529715 PMID:23643385 PMID:25741868 PMID:25959673 PMID:26467025 PMID:28492532 PMID:28518168 PMID:32461654 More...
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NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
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G |
STXBP2 |
syntaxin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 PMID:32313153 More...
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NCBI chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517
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G |
SURF1 |
SURF1 cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10636738 PMID:10647889 PMID:10746561 PMID:11317352 PMID:12515039 PMID:12943968 PMID:15214016 PMID:16199547 PMID:16326995 PMID:16542579 PMID:17576681 PMID:18583168 PMID:19780766 PMID:20624914 PMID:21937992 PMID:22488715 PMID:23829769 PMID:24027061 PMID:24462369 PMID:25111564 PMID:25326637 PMID:25741868 PMID:27756633 PMID:27896082 PMID:28429146 PMID:28492532 PMID:28639102 PMID:29933018 PMID:30872186 PMID:31967322 PMID:32445240 PMID:33134083 PMID:34302356 PMID:35693685 PMID:36675121 More...
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NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
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G |
TACO1 |
translational activator of cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease |
ClinVar |
PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 |
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NCBI chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883
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G |
ACAT2 |
acetyl-CoA acetyltransferase 2 |
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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 |
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NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
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G |
AGPAT4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
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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 |
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NCBI chr 1:49,709,437...49,837,848
Ensembl chr 1:49,709,741...49,837,091
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G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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G |
DYNLT1 |
dynein light chain Tctex-type 1 |
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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 |
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NCBI chr 1:48,058,804...48,066,389
Ensembl chr 1:48,058,804...48,066,609
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G |
EZR |
ezrin |
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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 |
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NCBI chr 1:48,160,206...48,210,036
Ensembl chr 1:48,160,206...48,210,036
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G |
FNDC1 |
fibronectin type III domain containing 1 |
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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 |
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NCBI chr 1:48,501,657...48,602,962
Ensembl chr 1:48,501,355...48,602,336
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G |
GTF2H5 |
general transcription factor IIH subunit 5 |
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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 |
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NCBI chr 1:47,669,196...47,681,370
Ensembl chr 1:47,669,248...47,681,368
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G |
IGF2R |
insulin like growth factor 2 receptor |
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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 |
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NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
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G |
MAP3K4 |
mitogen-activated protein kinase kinase kinase 4 |
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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 |
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NCBI chr 1:49,590,615...49,702,289
Ensembl chr 1:49,548,274...49,702,289
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G |
MAS1 |
MAS1 proto-oncogene, G protein-coupled receptor |
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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 |
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NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244
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G |
MRPL18 |
mitochondrial ribosomal protein L18 |
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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 |
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NCBI chr 1:49,038,814...49,043,667
Ensembl chr 1:49,038,871...49,043,501
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G |
PLG |
plasminogen |
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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 |
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NCBI chr 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260
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G |
PNLDC1 |
PARN like ribonuclease domain containing exonuclease 1 |
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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 |
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NCBI chr 1:49,045,153...49,063,008
Ensembl chr 1:49,044,979...49,062,802
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
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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 |
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NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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G |
RSPH3 |
radial spoke head 3 |
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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 |
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NCBI chr 1:48,329,171...48,349,924
Ensembl chr 1:48,329,211...48,349,088
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G |
SERAC1 |
serine active site containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome |
OMIM ClinVar |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:25741916 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:29686941 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 More...
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NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494
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G |
SLC22A1 |
solute carrier family 22 member 1 |
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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 |
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NCBI chr 1:49,268,978...49,296,522
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G |
SLC22A2 |
solute carrier family 22 member 2 |
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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 |
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NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435
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G |
SLC22A3 |
solute carrier family 22 member 3 |
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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 |
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NCBI chr 1:49,407,949...49,496,627
Ensembl chr 1:49,407,966...49,496,620
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G |
SOD2 |
superoxide dismutase 2 |
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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 |
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NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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G |
SYTL3 |
synaptotagmin like 3 |
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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 |
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NCBI chr 1:48,066,449...48,159,980
Ensembl chr 1:48,067,612...48,159,936
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G |
TAGAP |
T cell activation RhoGTPase activating protein |
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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 |
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NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188
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G |
TCP1 |
t-complex 1 |
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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 |
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NCBI chr 1:49,029,260...49,038,023
Ensembl chr 1:49,029,282...49,038,020
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G |
TMEM181 |
transmembrane protein 181 |
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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 |
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NCBI chr 1:47,969,247...48,058,207
Ensembl chr 1:47,983,174...48,055,111
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G |
TULP4 |
TUB like protein 4 |
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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 |
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NCBI chr 1:47,727,642...47,952,818
Ensembl chr 1:47,791,993...47,951,710
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G |
WTAP |
WT1 associated protein |
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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 |
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NCBI chr 1:48,976,523...49,004,536
Ensembl chr 1:48,976,499...49,003,961
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G |
NCAPH2 |
non-SMC condensin II complex subunit H2 |
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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...
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NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824
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G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18924171 PMID:19879173 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25741868 PMID:26467025 PMID:27290639 PMID:28492532 PMID:28798025 PMID:29193756 PMID:29351582 PMID:31589614 PMID:31623504 PMID:32668698 PMID:33098801 PMID:34426522 PMID:34691145 More...
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NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
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G |
LRPPRC |
leucine rich pentatricopeptide repeat containing |
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ISO |
ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian |
OMIM ClinVar |
PMID:9536098 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:17576681 PMID:18414213 PMID:20200222 PMID:21266382 PMID:21437181 PMID:22494076 PMID:24033266 PMID:25741868 PMID:26510951 PMID:26741492 PMID:27408822 PMID:27574110 PMID:28492532 PMID:29152527 PMID:31308188 PMID:32962729 PMID:33658040 PMID:34440436 More...
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NCBI chr10:46,325,312...46,438,376
Ensembl chr10:46,327,223...46,438,342
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G |
SURF1 |
SURF1 cytochrome c oxidase assembly factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16326995 |
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NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
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G |
ABCA2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857
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G |
ABO |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
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G |
ADAMTS13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
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G |
ADAMTSL2 |
ADAMTS like 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300
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G |
AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620
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G |
AJM1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,738,344...48,744,604
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G |
AK8 |
adenylate kinase 8 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,470,688...51,598,787
Ensembl chr 9:51,470,756...51,598,786
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G |
ATP5PO |
ATP synthase peripheral stalk subunit OSCP |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:35621276 |
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NCBI chr31:28,472,106...28,481,759
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G |
BARHL1 |
BarH like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093
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G |
BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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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:25326637 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:28492532 PMID:30582773 More...
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NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
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G |
BRD3 |
bromodomain containing 3 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,290,488...50,322,243
Ensembl chr 9:50,288,240...50,322,127
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G |
C8G |
complement C8 gamma chain |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,672,332...48,674,190
Ensembl chr 9:48,672,333...48,673,854
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G |
CACFD1 |
calcium channel flower domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,868,218...49,878,254
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G |
CAMSAP1 |
calmodulin regulated spectrin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332
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G |
CARD9 |
caspase recruitment domain family member 9 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591
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G |
CCDC183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,768,012...48,775,191
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G |
CEL |
carboxyl ester lipase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,337,205...51,345,284
Ensembl chr 9:51,337,187...51,362,422
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G |
CFAP77 |
cilia and flagella associated protein 77 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,721,893...51,852,212
Ensembl chr 9:51,721,839...51,852,453
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G |
CLIC3 |
chloride intracellular channel 3 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,634,061...48,637,083
Ensembl chr 9:48,634,878...48,637,015
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G |
COL5A1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
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G |
COL6A3 |
collagen type VI alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
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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:23665194 PMID:23814038 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
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G |
COX15 |
cytochrome c oxidase assembly homolog COX15 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 PMID:33746038 More...
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NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087
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G |
CUTC |
cutC copper transporter |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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NCBI chr28:12,624,242...12,651,179
Ensembl chr28:12,624,323...12,651,153
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G |
DBH |
dopamine beta-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
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G |
DDX31 |
DEAD-box helicase 31 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,631,608...51,700,747
Ensembl chr 9:51,629,757...51,699,301
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G |
DIPK1B |
divergent protein kinase domain 1B |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,836,323...48,844,827
Ensembl chr 9:48,837,035...48,845,482
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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 |
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NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
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G |
DNLZ |
DNL-type zinc finger |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,120,802...49,122,789
Ensembl chr 9:49,120,818...49,122,804
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G |
DPP7 |
dipeptidyl peptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,554,062...48,557,752
Ensembl chr 9:48,554,077...48,557,746
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G |
ECHS1 |
enoyl-CoA hydratase, short chain 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25393721 PMID:25741868 PMID:28492532 PMID:32677908 PMID:33139125 PMID:33163364 More...
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NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
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G |
EDF1 |
endothelial differentiation related factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,722,918...48,726,358
Ensembl chr 9:48,722,658...48,731,723
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G |
EGFL7 |
EGF like domain multiple 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,878,075...48,890,002
Ensembl chr 9:48,878,075...48,895,541
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G |
EME2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28777931 |
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NCBI chr 6:39,127,433...39,129,487
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G |
ENTPD2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452
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G |
ENTPD7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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NCBI chr28:12,565,173...12,601,152
Ensembl chr28:12,564,727...12,600,240
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G |
ENTR1 |
endosome associated trafficking regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,083,368...49,089,608
Ensembl chr 9:49,083,499...49,089,023
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889
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G |
FAM163B |
family with sequence similarity 163 member B |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,960,093...49,988,263
Ensembl chr 9:49,961,706...49,962,807
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G |
FASTKD2 |
FAST kinase domains 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:31944455 |
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NCBI chr37:15,287,446...15,303,005
Ensembl chr37:15,287,672...15,302,999
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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...
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NCBI chr12:57,139,183...57,211,157
Ensembl chr12:57,139,491...57,211,137
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G |
FBXW5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,674,299...48,678,846
Ensembl chr 9:48,673,456...48,679,128
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G |
FCN2 |
ficolin 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,868,942...50,876,001
Ensembl chr 9:50,868,973...50,875,792
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G |
FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28654958 PMID:29142257 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31589614 PMID:33613441 More...
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NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314
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G |
FUT7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,604,879...48,609,292
Ensembl chr 9:48,606,435...48,609,303
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G |
GAMT |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
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NCBI chr20:57,440,698...57,442,588
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G |
GBGT1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,274,811...51,284,131
Ensembl chr 9:51,274,686...51,284,122
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G |
GFI1B |
growth factor independent 1B transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
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G |
GLT6D1 |
glycosyltransferase 6 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,638,849...49,649,980
Ensembl chr 9:49,639,072...49,649,399
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G |
GPSM1 |
G protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,124,828...49,152,079
Ensembl chr 9:49,118,627...49,152,208
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050
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G |
GTF3C4 |
general transcription factor IIIC subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,602,025...51,630,139
Ensembl chr 9:51,606,235...51,630,637
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G |
GTF3C5 |
general transcription factor IIIC subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,347,273...51,362,621
Ensembl chr 9:51,337,187...51,362,422
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G |
HTRA2 |
HtrA serine peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
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G |
IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25130867 PMID:25741868 PMID:28492532 |
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NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
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G |
INPP5E |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
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G |
KCNT1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633
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G |
LAMB1 |
laminin subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308
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G |
LCN10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,806,874...48,810,266
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G |
LCN12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,663,181...48,669,264
Ensembl chr 9:48,665,943...48,668,859
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G |
LCN15 |
lipocalin 15 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,784,995...48,789,272
Ensembl chr 9:48,769,526...48,794,188
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G |
LCN6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,800,699...48,805,946
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G |
LCN8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:48,789,948...48,796,002
Ensembl chr 9:48,769,526...48,794,188
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G |
LCN9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,632,813...49,636,854
Ensembl chr 9:49,632,799...49,637,517
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G |
LCNL1 |
lipocalin like 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,643,845...48,647,187
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G |
LHX3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118
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G |
LOC119873506 |
U6atac minor spliceosomal RNA |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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G |
LOC480667 |
endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,533,962...48,545,514
Ensembl chr 9:48,533,962...48,545,344
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G |
LOC486151 |
thiamine transporter 2 |
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IAGP |
Necrotising encephalopathy, subacute, of Leigh |
OMIA |
PMID:8844603 PMID:10664957 PMID:10912920 PMID:19466433 PMID:23469184 PMID:25117056 PMID:33081289 PMID:34544496 More...
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NCBI chr25:40,411,489...40,442,183
Ensembl chr25:40,412,427...40,438,042
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G |
LOC491263 |
beta-lactoglobulin-1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:49,663,646...49,667,034
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G |
LOC606974 |
UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:48,528,738...48,532,888
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G |
LOXL3 |
lysyl oxidase like 3 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392
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G |
LRPPRC |
leucine rich pentatricopeptide repeat containing |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:46,325,312...46,438,376
Ensembl chr10:46,327,223...46,438,342
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G |
MAMDC4 |
MAM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,726,392...48,736,173
Ensembl chr 9:48,727,523...48,734,820
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G |
MED22 |
mediator complex subunit 22 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,777,374...49,783,501
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G |
MIR126 |
microRNA mir-126 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504
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G |
MRPL39 |
mitochondrial ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:8602753 PMID:25741868 PMID:37133451 |
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NCBI chr31:21,089,747...21,110,975
Ensembl chr31:21,084,428...21,110,946
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G |
MRPS2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,211,701...51,214,465
Ensembl chr 9:51,211,627...51,214,475
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G |
MRPS34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:2877793 PMID:25741868 PMID:28777931 |
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NCBI chr 6:39,130,597...39,131,643
Ensembl chr 6:39,130,561...39,131,648
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G |
MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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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...
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NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
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G |
MT-ATP8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:1757091 PMID:2137962 PMID:7633428 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9243242 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11062027 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14697245 PMID:14998933 PMID:17101920 PMID:17452590 PMID:18682780 PMID:19667215 PMID:19875463 PMID:20207608 PMID:24088041 PMID:24153443 PMID:25741868 PMID:25941154 PMID:26633545 PMID:26993169 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 PMID:1732158 PMID:2137962 PMID:8042671 PMID:8060346 PMID:8095070 PMID:8240356 PMID:8250532 PMID:8395787 PMID:8680405 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9742104 PMID:9806551 PMID:9832034 PMID:9883875 PMID:10577941 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11349229 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:12140182 PMID:13298683 PMID:14998933 PMID:15647368 PMID:16152638 PMID:17452590 PMID:17659260 PMID:19460299 PMID:19667215 PMID:19875463 PMID:20301595 PMID:21419139 PMID:22130971 PMID:22949535 PMID:24088041 PMID:24498190 PMID:24713204 PMID:25701779 PMID:25741868 PMID:26011537 PMID:26428318 PMID:26467025 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30950284 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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G |
MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
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:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11799391 PMID:11843698 PMID:11925565 PMID:12612282 PMID:14998933 PMID:17452590 PMID:17637808 PMID:18337306 PMID:19398658 PMID:19667215 PMID:19875463 PMID:22241583 PMID:24088041 PMID:24931671 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717
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G |
MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
|
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:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7496173 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8042671 PMID:8095070 PMID:8240356 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11063732 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15823923 PMID:16358358 PMID:17403843 PMID:17452590 PMID:18587274 PMID:19667215 PMID:19875463 PMID:20301353 PMID:23645088 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
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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...
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NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
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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:1436530 PMID:1442494 PMID:1539598 PMID:1550128 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8104867 PMID:8250532 PMID:8395787 PMID:8496715 PMID:9199572 PMID:9221962 PMID:9299504 PMID:9329425 PMID:9556461 PMID:9806551 PMID:9883875 PMID:10519336 PMID:10520236 PMID:10521313 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10704697 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11238687 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:11938495 PMID:12160969 PMID:12406974 PMID:12610069 PMID:12756609 PMID:13298683 PMID:14681830 PMID:14998933 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:17452590 PMID:17454741 PMID:17517629 PMID:17535832 PMID:17620555 PMID:17637808 PMID:18216301 PMID:18502698 PMID:18504678 PMID:18691441 PMID:18977334 PMID:19667215 PMID:19875463 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:24088041 PMID:24146900 PMID:24153443 PMID:24986921 PMID:25741868 PMID:26262956 PMID:26428318 PMID:26467025 PMID:26633545 PMID:27177320 PMID:27343181 PMID:27450679 PMID:28187756 PMID:28708239 PMID:28821228 PMID:29330893 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:35383288 More...
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NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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G |
MT-ND2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:1900003 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11479733 PMID:11730668 PMID:11751691 PMID:11820805 PMID:11843698 PMID:11925565 PMID:12406974 PMID:14998933 PMID:15286228 PMID:16738010 PMID:17452590 PMID:18682780 PMID:19370763 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:28187756 PMID:29481798 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
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G |
MT-ND3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
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:6343397 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11456298 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:12227465 PMID:14684687 PMID:14705112 PMID:14764913 PMID:14998933 PMID:15372108 PMID:17066297 PMID:17152068 PMID:17413873 PMID:17452590 PMID:17535832 PMID:19458970 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25118196 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
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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:1436530 PMID:1469456 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3395302 PMID:8042671 PMID:8095070 PMID:8213827 PMID:8250532 PMID:8395787 PMID:8644732 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:12707444 PMID:14581685 PMID:14998933 PMID:15972314 PMID:16120329 PMID:17022785 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:28027978 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
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G |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1764087 PMID:1900003 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9299505 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10589546 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11102991 PMID:11198278 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11938446 PMID:12624137 PMID:14520659 PMID:14730434 PMID:14998933 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:17400793 PMID:17452590 PMID:17535832 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:19667215 PMID:19875463 PMID:20301353 PMID:21131053 PMID:22022272 PMID:22780954 PMID:23463613 PMID:24088041 PMID:25701779 PMID:25741868 PMID:26633545 PMID:27422531 PMID:27450679 PMID:29602698 PMID:29987491 PMID:30143805 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598
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G |
MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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 More...
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NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
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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...
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NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430
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G |
MYMK |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007
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G |
NACC2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,323,613...49,393,017
Ensembl chr 9:49,363,280...49,389,508
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G |
ND4L |
NADH dehydrogenase subunit 4L |
|
ISO |
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:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19394449 PMID:19667215 PMID:19875463 PMID:20643099 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29444077 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207
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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 |
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NCBI chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901
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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 |
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NCBI chr15:34,971,944...34,996,458
Ensembl chr15:34,954,364...34,996,409
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G |
NDUFA13 |
NADH:ubiquinone oxidoreductase subunit A13 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:43,721,568...43,730,607
Ensembl chr20:43,721,640...43,730,295
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G |
NDUFA2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531
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G |
NDUFA9 |
NADH:ubiquinone oxidoreductase subunit A9 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr27:40,176,090...40,217,293
Ensembl chr27:40,167,293...40,217,190
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G |
NDUFAF2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:16200211 PMID:18180188 PMID:20818383 PMID:22644603 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 PMID:31130284 PMID:34234304 More...
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NCBI chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696
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G |
NDUFAF5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 PMID:26275793 PMID:28492532 PMID:29581464 PMID:30473481 PMID:30581749 PMID:32005694 PMID:32348839 PMID:32918965 PMID:34177781 More...
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NCBI chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176
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G |
NDUFAF6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:25741916 PMID:26741492 PMID:28492532 PMID:28639102 PMID:30642748 PMID:31665838 PMID:31967322 PMID:32348839 PMID:33097395 More...
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NCBI chr29:39,668,089...39,692,479
Ensembl chr29:39,668,089...39,692,470
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G |
NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
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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 |
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NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754
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G |
NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
DNA:missense mutation:cds:p.M292T (human) |
RGD |
PMID:20819849 |
RGD:6482269 |
NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279
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G |
NDUFS3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 |
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NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921
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G |
NDUFS4 |
NADH:ubiquinone oxidoreductase subunit S4 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9463323 PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 PMID:14765537 PMID:15269216 PMID:16199547 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 More...
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NCBI chr 4:61,613,580...61,727,219
Ensembl chr 4:61,613,589...61,727,205
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G |
NDUFS7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
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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...
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NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825
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G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:33233646 PMID:35551192 More...
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NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979
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G |
NDUFV1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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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:23596069 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:34740920 PMID:34807224 PMID:35482246 PMID:35586607 More...
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NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434
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G |
NOTCH1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
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G |
NPDC1 |
neural proliferation, differentiation and control 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,596,398...48,601,327
Ensembl chr 9:48,596,398...48,611,437
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G |
OBP2B |
odorant binding protein 2B |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,707,505...49,709,999
Ensembl chr 9:49,706,531...49,710,097
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G |
OLFM1 |
olfactomedin 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,972,035...50,996,770
Ensembl chr 9:50,979,146...50,996,602
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G |
PARL |
presenilin associated rhomboid like |
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ISO |
OMIM:220111 | OMIM:256000 |
MouseDO |
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NCBI chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545
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G |
PAXX |
PAXX non-homologous end joining factor |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,637,735...48,639,289
Ensembl chr 9:48,637,731...48,639,239
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G |
PHPT1 |
phosphohistidine phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725
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G |
PIERCE1 |
piercer of microtubule wall 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,207,491...51,209,955
Ensembl chr 9:51,207,493...51,210,257
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G |
PMPCA |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961
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G |
PPP1R26 |
protein phosphatase 1 regulatory subunit 26 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,196,524...51,204,311
Ensembl chr 9:51,199,252...51,202,800
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G |
PTGDS |
prostaglandin D2 synthase |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814
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G |
PYROXD2 |
pyridine nucleotide-disulphide oxidoreductase domain 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr28:11,517,812...11,545,514
Ensembl chr28:11,517,860...11,545,337
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G |
QSOX2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,213,295...49,245,164
Ensembl chr 9:49,213,295...49,245,176
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G |
RABL6 |
RAB, member RAS oncogene family like 6 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,746,363...48,767,529
Ensembl chr 9:48,594,845...48,770,844
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G |
RALGDS |
ral guanine nucleotide dissociation stimulator |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,287,252...51,329,997
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G |
REXO4 |
REX4 homolog, 3'-5' exonuclease |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632
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G |
RPL7A |
ribosomal protein L7a |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,783,635...49,786,328
Ensembl chr 9:49,783,635...49,786,328
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G |
RXRA |
retinoid X receptor alpha |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119
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G |
SAPCD2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,571,045...48,578,517
Ensembl chr 9:48,570,891...48,594,452
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G |
SARDH |
sarcosine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553
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G |
SCO1 |
synthesis of cytochrome C oxidase 1 |
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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 |
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NCBI chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 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:25394176 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:27895137 PMID:28166811 PMID:28380452 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28714951 PMID:28724664 PMID:28798025 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:30775854 PMID:30877234 PMID:31368675 PMID:31512412 PMID:31527833 PMID:31589614 PMID:31666924 PMID:31827275 PMID:32091409 PMID:32373528 PMID:32462735 PMID:32561571 PMID:32570879 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33606809 PMID:33674644 PMID:33960148 PMID:34014604 PMID:34286374 PMID:34754157 PMID:35059314 PMID:35441217 PMID:36253524 More...
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NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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G |
SDHC |
succinate dehydrogenase complex subunit C |
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ISO |
OMIM:256000 |
MouseDO |
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NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
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G |
SEC16A |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848
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G |
SETX |
senataxin |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
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G |
SLC2A6 |
solute carrier family 2 member 6 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,878,325...49,885,549
Ensembl chr 9:49,878,634...49,885,696
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G |
SNAPC4 |
small nuclear RNA activating complex polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,090,615...49,110,763
Ensembl chr 9:49,091,636...49,110,767
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G |
SOD2 |
superoxide dismutase 2 |
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ISO |
OMIM:220111 | OMIM:256000 |
MouseDO |
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NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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G |
SOHLH1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,593,740...49,598,279
Ensembl chr 9:49,593,703...49,599,113
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G |
SPACA9 |
sperm acrosome associated 9 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,460,359...51,470,612
Ensembl chr 9:51,460,623...51,468,902
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G |
STKLD1 |
serine/threonine kinase like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,807,272...49,827,611
Ensembl chr 9:49,807,250...49,827,567
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G |
SURF1 |
SURF1 cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:2933018 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10556302 PMID:10558868 PMID:10636738 PMID:10746561 PMID:11279059 PMID:11288709 PMID:11317352 PMID:11423010 PMID:11955926 PMID:12026244 PMID:12515039 PMID:12812953 PMID:12943968 PMID:14557577 PMID:15214016 PMID:16199547 PMID:16225813 PMID:16326995 PMID:16542579 PMID:16773507 PMID:17576681 PMID:17908801 PMID:18583168 PMID:18804471 PMID:19780766 PMID:20624914 PMID:20843780 PMID:21937992 PMID:22410471 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:31069529 PMID:31130284 PMID:31589614 PMID:31967322 PMID:32020600 PMID:32380162 PMID:32445240 PMID:33013660 PMID:33101984 PMID:33134083 PMID:34052969 PMID:34302356 PMID:34868319 PMID:34943053 PMID:35094435 PMID:35693685 PMID:36675121 More...
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NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
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G |
SURF2 |
surfeit 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,790,187...49,794,102
Ensembl chr 9:49,790,186...49,793,623
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G |
SURF4 |
surfeit 4 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,793,971...49,806,226
Ensembl chr 9:49,795,890...49,799,319
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G |
SURF6 |
surfeit 6 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,769,338...49,774,136
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G |
TACO1 |
translational activator of cytochrome c oxidase I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19503089 |
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NCBI chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
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G |
TIMMDC1 |
translocase of inner mitochondrial membrane domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr33:23,153,988...23,175,412
Ensembl chr33:23,154,225...23,175,083
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G |
TMCO6 |
transmembrane and coiled-coil domains 6 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:35,797,298...35,803,491
Ensembl chr 2:35,797,464...35,803,199
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G |
TMEM141 |
transmembrane protein 141 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,777,694...48,779,518
Ensembl chr 9:48,777,958...48,779,448
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G |
TMEM250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,308,397...49,311,360
Ensembl chr 9:49,308,350...49,311,487
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G |
TRAF2 |
TNF receptor associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,688,071...48,713,936
Ensembl chr 9:48,689,331...48,703,633
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G |
TSC1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
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G |
TTF1 |
transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:51,855,565...51,881,000
Ensembl chr 9:51,855,559...51,878,459
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G |
UBAC1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:49,423,924...49,444,589
Ensembl chr 9:49,423,408...49,444,585
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G |
VAV2 |
vav guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,103,004...50,232,753
Ensembl chr 9:50,094,447...50,230,954
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G |
VPS13D |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529
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G |
WDR5 |
WD repeat domain 5 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:50,352,600...50,371,224
Ensembl chr 9:50,352,472...50,371,236
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G |
PC |
pyruvate carboxylase |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669
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G |
MT-ND2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency |
ClinVar |
PMID:16738010 |
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NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
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G |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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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...
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NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598
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G |
MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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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...
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NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
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G |
MAP3K15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: X-linked Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:15,353,081...15,465,862
Ensembl chr X:15,353,081...15,465,992
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G |
PDHA1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: X-linked Leigh syndrome |
ClinVar |
PMID:1293379 PMID:3034892 PMID:9671272 PMID:20002461 PMID:21846590 PMID:25495354 PMID:25741868 PMID:26865159 PMID:28492532 More...
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NCBI chr X:15,338,364...15,354,011
Ensembl chr X:15,338,202...15,387,458
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G |
PDHX |
pyruvate dehydrogenase complex component X |
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ISO |
ClinVar Annotator: match by term: X-linked Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:32,947,883...33,011,845
Ensembl chr18:32,917,858...33,011,819
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G |
C10H2orf15 |
chromosome 10 C2orf15 homolog |
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ISO |
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency |
OMIM ClinVar |
PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 PMID:27247813 PMID:28492532 PMID:31042466 PMID:34440436 PMID:35388219 More...
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NCBI chr10:43,545,023...43,556,215
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G |
DICER1 |
dicer 1, ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency |
ClinVar |
PMID:25022261 PMID:25326637 PMID:25741868 |
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NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
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G |
DSG2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency |
ClinVar |
PMID:25637381 PMID:25741868 PMID:28492532 PMID:31042466 |
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NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926
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G |
MITD1 |
microtubule interacting and trafficking domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency |
ClinVar |
PMID:17570395 PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 PMID:27247813 PMID:28492532 PMID:31042466 PMID:34440436 PMID:35388219 More...
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NCBI chr10:43,513,240...43,525,543
Ensembl chr10:43,513,277...43,523,883
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G |
MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
DNA:point mutation: :m.9176T>C (human) DNA:point mutation: :m.9185T>C (human) DNA:transversion: :m.8993T>G (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:14598233 PMID:15709156 PMID:18461509 PMID:27129022 |
RGD:5490262 RGD:5490270 RGD:5490291 |
NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
DNA:snps:cds:p.E59K, p.R159Q (human) |
RGD |
PMID:20301352 |
RGD:5148009 |
NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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G |
COA8 |
cytochrome c oxidase assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:28492532 |
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NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466
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G |
COX10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:12928484 PMID:22669974 PMID:23814038 PMID:24100867 PMID:25741868 PMID:28492532 PMID:32313153 More...
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NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
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G |
COX20 |
cytochrome c oxidase assembly factor COX20 |
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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...
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NCBI chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862
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G |
LOC611528 |
protein PET100 homolog, mitochondrial |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 PMID:32313153 More...
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NCBI chr20:52,406,154...52,412,552
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G |
LOC612644 |
cytochrome c oxidase subunit 6B1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:116,960,851...116,969,415
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G |
MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:8630495 PMID:12414820 PMID:32906214 |
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NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
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G |
NCAPH2 |
non-SMC condensin II complex subunit H2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:23643385 PMID:25741868 PMID:28492532 |
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NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824
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G |
SCO1 |
synthesis of cytochrome C oxidase 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661
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G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
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G |
STXBP2 |
syntaxin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:24462369 PMID:25293719 PMID:25741868 PMID:28492532 PMID:31406627 PMID:32313153 More...
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NCBI chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517
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G |
SURF1 |
SURF1 cytochrome c oxidase assembly factor |
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ISO |
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OMIM |
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NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
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G |
TACO1 |
translational activator of cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
ClinVar |
PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 |
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NCBI chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883
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G |
COX14 |
cytochrome c oxidase assembly factor COX14 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 |
OMIM ClinVar |
PMID:22243966 PMID:25741868 PMID:28492532 |
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NCBI chr27:4,609,156...4,614,325
Ensembl chr27:4,609,385...4,609,558
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G |
COX20 |
cytochrome c oxidase assembly factor COX20 |
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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...
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NCBI chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862
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G |
LOC611528 |
protein PET100 homolog, mitochondrial |
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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:31406627 PMID:32313153 More...
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NCBI chr20:52,406,154...52,412,552
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G |
STXBP2 |
syntaxin binding protein 2 |
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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:31406627 PMID:32313153 More...
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NCBI chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517
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G |
COA6 |
cytochrome c oxidase assembly factor 6 |
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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...
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NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456
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G |
CCDC56 |
coiled-coil domain containing 56 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 |
OMIM ClinVar |
PMID:28492532 |
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NCBI chr 9:20,223,096...20,224,178
Ensembl chr 9:20,223,096...20,224,178
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G |
COX8A |
cytochrome c oxidase subunit VIIIA (ubiquitous) |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528
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G |
COX4I1 |
cytochrome c oxidase subunit 4I1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31290619 |
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NCBI chr 5:66,883,730...66,891,734
Ensembl chr 5:66,883,732...66,891,500
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G |
AMN |
amnion associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:70,800,435...70,807,835
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G |
BAG5 |
BAG cochaperone 5 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:71,318,730...71,324,743
Ensembl chr 8:71,321,625...71,322,992
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G |
CDC42BPB |
CDC42 binding protein kinase beta |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:70,809,943...70,915,922
Ensembl chr 8:70,811,023...71,033,324
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G |
COA8 |
cytochrome c oxidase assembly factor 8 |
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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 |
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NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466
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G |
EIF5 |
eukaryotic translation initiation factor 5 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:71,102,628...71,111,971
Ensembl chr 8:71,102,690...71,270,399
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G |
EXOC3L4 |
exocyst complex component 3 like 4 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:70,943,515...70,956,211
Ensembl chr 8:70,946,994...70,955,867
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G |
LBHD2 |
LBH domain containing 2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:70,935,313...70,939,013
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G |
LOC100855552 |
creatine kinase B-type |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:71,284,104...71,287,379
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G |
LOC119873132 |
small nucleolar RNA SNORA28 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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G |
MARK3 |
microtubule affinity regulating kinase 3 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:71,148,263...71,269,717
Ensembl chr 8:71,102,690...71,270,399
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G |
RCOR1 |
REST corepressor 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:70,586,259...70,637,453
Ensembl chr 8:70,585,567...70,627,158
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G |
TNFAIP2 |
TNF alpha induced protein 2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:70,965,776...70,977,807
Ensembl chr 8:70,967,741...70,976,396
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G |
TRAF3 |
TNF receptor associated factor 3 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645
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G |
TRMT61A |
tRNA methyltransferase 61A |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 |
ClinVar |
PMID:25175347 PMID:25741868 PMID:29577824 |
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NCBI chr 8:71,294,129...71,300,679
Ensembl chr 8:71,294,303...71,300,687
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G |
COX6A2 |
cytochrome c oxidase subunit 6A2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 |
OMIM ClinVar |
PMID:25741868 PMID:31155743 |
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NCBI chr 6:16,807,094...16,807,763
Ensembl chr 6:16,807,150...16,809,998
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G |
KAT14 |
lysine acetyltransferase 14 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 |
ClinVar |
PMID:25741868 PMID:28386624 |
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NCBI chr24:4,933,066...4,968,473
Ensembl chr24:4,933,069...4,968,216
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G |
LOC100688040 |
protein PET117 homolog, mitochondrial |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 |
OMIM ClinVar |
PMID:25741868 PMID:28386624 |
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NCBI chr24:4,968,462...4,971,802
Ensembl chr24:4,933,573...4,971,706
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G |
COA5 |
cytochrome c oxidase assembly factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347
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G |
COA6 |
cytochrome c oxidase assembly factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:5,447,252...5,454,500
Ensembl chr 4:5,447,249...5,454,456
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G |
COX15 |
cytochrome c oxidase assembly homolog COX15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087
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G |
NCAPH2 |
non-SMC condensin II complex subunit H2 |
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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:20445193 PMID:23345593 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25097374 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:31967322 PMID:32461654 PMID:32600061 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34362006 PMID:34426522 PMID:34691145 PMID:34732400 PMID:34746378 PMID:35083221 PMID:35094435 PMID:36678915 More...
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NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824
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SCO2 |
synthesis of cytochrome C oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 |
OMIM ClinVar |
PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18804471 PMID:18924171 PMID:19353847 PMID:19879173 PMID:20159436 PMID:20445193 PMID:23345593 PMID:23407777 PMID:23643385 PMID:23719228 PMID:25058219 PMID:25097374 PMID:25741868 PMID:25959673 PMID:26467025 PMID:27290639 PMID:28429146 PMID:28492532 PMID:28518168 PMID:28798025 PMID:29193756 PMID:29351582 PMID:30340907 PMID:30593977 PMID:31589614 PMID:31623504 PMID:31967322 PMID:32461654 PMID:32600061 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34362006 PMID:34426522 PMID:34691145 PMID:34732400 PMID:34746378 PMID:35083221 PMID:35094435 PMID:36678915 More...
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NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
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COX5A |
cytochrome c oxidase subunit Va |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 |
OMIM ClinVar |
PMID:28247525 PMID:35246835 |
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NCBI chr30:37,955,203...37,968,111
Ensembl chr30:37,905,827...37,968,111
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NDUFA4 |
NDUFA4 mitochondrial complex associated |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr14:25,887,204...25,893,746
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COX16 |
cytochrome c oxidase assembly factor COX16 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 |
OMIM ClinVar |
PMID:33169484 |
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NCBI chr 8:44,006,532...44,032,041
Ensembl chr 8:44,006,423...44,032,173 Ensembl chr 8:44,006,423...44,032,173
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COX11 |
cytochrome c oxidase copper chaperone COX11 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 |
OMIM ClinVar |
PMID:36030551 PMID:38068960 |
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NCBI chr 9:30,073,030...30,079,803
Ensembl chr 9:30,055,171...30,079,833
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COX10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 |
OMIM ClinVar |
PMID:10767350 PMID:12928484 PMID:15455402 PMID:22669974 PMID:23665194 PMID:24100867 PMID:25741868 PMID:28492532 PMID:32313153 More...
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NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
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SCO1 |
synthesis of cytochrome C oxidase 1 |
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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...
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NCBI chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661
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COX15 |
cytochrome c oxidase assembly homolog COX15 |
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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...
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NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087
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LOC612644 |
cytochrome c oxidase subunit 6B1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:116,960,851...116,969,415
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TACO1 |
translational activator of cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 |
OMIM ClinVar |
PMID:16199547 PMID:19503089 PMID:20727754 PMID:25044680 PMID:25741868 PMID:25741909 PMID:28492532 More...
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NCBI chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883
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COA5 |
cytochrome c oxidase assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
OMIM ClinVar |
PMID:21457908 |
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NCBI chr10:44,073,218...44,080,346
Ensembl chr10:43,931,673...44,080,347
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ECHS1 |
enoyl-CoA hydratase, short chain 1 |
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ISO |
ClinVar Annotator: match by term: ECHS1-related condition | ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25125611 PMID:25393721 PMID:25741868 PMID:25741915 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:31016024 PMID:31216405 PMID:31219693 PMID:32013919 PMID:32313153 PMID:32642440 PMID:32677093 PMID:32677908 PMID:32858208 PMID:32901917 PMID:33112498 PMID:33139125 PMID:33163364 PMID:35094435 PMID:35856138 PMID:36200804 PMID:37377599 More...
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NCBI chr28:40,939,856...40,947,694
Ensembl chr28:40,939,961...40,946,167
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ATP5PO |
ATP synthase peripheral stalk subunit OSCP |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:35621276 |
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NCBI chr31:28,472,106...28,481,759
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BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:12215968 PMID:12910490 PMID:17314340 PMID:17403714 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:22277166 PMID:24033266 PMID:24704045 PMID:25741868 PMID:25895478 PMID:28492532 PMID:30582773 More...
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NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
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COX10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh |
ClinVar |
PMID:23665194 PMID:23814038 PMID:25741868 PMID:28492532 |
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NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
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COX15 |
cytochrome c oxidase assembly homolog COX15 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr28:12,609,690...12,625,467
Ensembl chr28:12,610,401...12,624,087
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DLD |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889
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FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
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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...
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NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314
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GAMT |
guanidinoacetate N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
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NCBI chr20:57,440,698...57,442,588
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IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25130867 PMID:25741868 PMID:28492532 |
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NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
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LAMB1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308
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LRPPRC |
leucine rich pentatricopeptide repeat containing |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:46,325,312...46,438,376
Ensembl chr10:46,327,223...46,438,342
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MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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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...
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NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
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MT-ATP8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006
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MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 PMID:1732158 PMID:2137962 PMID:8042671 PMID:8060346 PMID:8095070 PMID:8240356 PMID:8250532 PMID:8395787 PMID:8680405 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9742104 PMID:9883875 PMID:10577941 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:16152638 PMID:17452590 PMID:17659260 PMID:19667215 PMID:19875463 PMID:20301595 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717
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MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
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MT-CYB |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:10960495 PMID:24667782 |
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NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
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MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8496715 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:14998933 PMID:15342361 PMID:15720387 PMID:15883259 PMID:16738010 PMID:17452590 PMID:17620555 PMID:17637808 PMID:19667215 PMID:19875463 PMID:20301353 PMID:22079202 PMID:22241583 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:35383288 More...
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NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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MT-ND2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
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MT-ND3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11456298 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14684687 PMID:14705112 PMID:14764913 PMID:14998933 PMID:15372108 PMID:17152068 PMID:17413873 PMID:17452590 PMID:17535832 PMID:19458970 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
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MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
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G |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598
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G |
MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
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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...
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NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430
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G |
ND4L |
NADH dehydrogenase subunit 4L |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207
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G |
NDUFA10 |
NADH:ubiquinone oxidoreductase subunit A10 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901
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G |
NDUFA12 |
NADH:ubiquinone oxidoreductase subunit A12 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:35141356 |
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NCBI chr15:34,971,944...34,996,458
Ensembl chr15:34,954,364...34,996,409
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G |
NDUFAF2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
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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 PMID:34234304 More...
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NCBI chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696
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G |
NDUFAF5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 PMID:26275793 PMID:28492532 PMID:29581464 PMID:30473481 PMID:30581749 PMID:32918965 PMID:34177781 More...
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NCBI chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176
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G |
NDUFAF6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:25741916 PMID:26741492 PMID:28492532 PMID:28639102 PMID:30642748 PMID:31665838 PMID:31967322 PMID:32348839 PMID:33097395 More...
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NCBI chr29:39,668,089...39,692,479
Ensembl chr29:39,668,089...39,692,470
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G |
NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754
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G |
NDUFS3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 |
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NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921
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G |
NDUFS4 |
NADH:ubiquinone oxidoreductase subunit S4 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 4:61,613,580...61,727,219
Ensembl chr 4:61,613,589...61,727,205
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G |
NDUFS7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
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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...
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NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825
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G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:9837812 PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:33233646 PMID:35551192 More...
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NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979
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G |
NDUFV1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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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...
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NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434
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G |
SCO1 |
synthesis of cytochrome C oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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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: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:24781757 PMID:25363768 PMID:25394176 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28714951 PMID:28724664 PMID:28798025 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30201732 PMID:30680959 PMID:30775854 PMID:30877234 PMID:31368675 PMID:31527833 PMID:31589614 PMID:31827275 PMID:32462735 PMID:32570879 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:34014604 PMID:34286374 PMID:35059314 PMID:35441217 More...
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NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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G |
SURF1 |
SURF1 cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:2933018 PMID:10443880 PMID:22488715 PMID:24027061 PMID:24462369 PMID:25741868 PMID:28492532 PMID:29933018 PMID:32445240 PMID:34052969 More...
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NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
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