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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 |
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NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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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 chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Leigh's disease |
ClinVar |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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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: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23814038 PMID:25741868 PMID:28492532 |
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NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
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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 RGD |
PMID:9536098 PMID:12474143 PMID:15863660 PMID:17576681 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 PMID:33746038 PMID:15235026 More...
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RGD:1598467 |
NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
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G |
Cutc |
cutC copper transporter |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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NCBI chr 1:242,622,276...242,637,048
Ensembl chr 1:242,622,276...242,637,047
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G |
Dld |
dihydrolipoamide dehydrogenase |
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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 chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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G |
Echs1 |
enoyl-CoA hydratase, short chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leigh syndrome |
CTD ClinVar |
PMID:25125611 PMID:25393721 PMID:25741868 PMID:26099313 |
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NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
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G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28777931 |
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NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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G |
Entpd7 |
ectonucleoside triphosphate diphosphohydrolase 7 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447
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G |
Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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G |
Fastkd2 |
FAST kinase domains 2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:31944455 |
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NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
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G |
Fbxl4 |
F-box and leucine-rich repeat protein 4 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
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NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 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:20818383 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28654958 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31589614 PMID:33613441 More...
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
Gamt |
guanidinoacetate N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
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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 chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
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G |
Lamb1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
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ISO |
Leigh syndrome French Canadian variant ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:17050673 PMID:12529507 |
RGD:1600674, RGD:1600676 |
NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
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G |
Mrpl39 |
mitochondrial ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125
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G |
Mrps34 |
mitochondrial ribosomal protein S34 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:2877793 PMID:25741868 PMID:28777931 |
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NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
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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: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: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:28027978 PMID:29307858 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:7,919...8,599
Ensembl chr MT:7,919...8,599
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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 |
PMID:1757091 PMID:7633428 PMID:9243242 PMID:11062027 PMID:14697245 PMID:17101920 PMID:18682780 PMID:20207608 PMID:24153443 PMID:25741868 PMID:25941154 PMID:26993169 More...
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NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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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:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:9806551 PMID:9832034 PMID:10577941 PMID:11349229 PMID:12140182 PMID:13298683 PMID:15647368 PMID:16152638 PMID:17659260 PMID:19460299 PMID:20301595 PMID:21419139 PMID:22130971 PMID:22949535 PMID:24498190 PMID:24713204 PMID:25701779 PMID:25741868 PMID:26011537 PMID:26428318 PMID:26467025 PMID:30950284 More...
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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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 |
PMID:11799391 PMID:12612282 PMID:17637808 PMID:18337306 PMID:19398658 PMID:22241583 PMID:24931671 PMID:25741868 PMID:26467025 PMID:32313153 More...
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:7496173 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 PMID:11063732 PMID:15823923 PMID:16358358 PMID:17403843 PMID:18587274 PMID:20301353 PMID:23645088 PMID:25741868 PMID:30143805 More...
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
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ISO |
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 More...
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8104867 PMID:8496715 PMID:9299504 PMID:9806551 PMID:10519336 PMID:10520236 PMID:10521313 PMID:10704697 PMID:11238687 PMID:11854175 PMID:11938495 PMID:12160969 PMID:12406974 PMID:12610069 PMID:12756609 PMID:13298683 PMID:14681830 PMID:15465027 PMID:15466014 PMID:15896721 PMID:15972314 PMID:15977098 PMID:16050984 PMID:16738010 PMID:16807713 PMID:16828917 PMID:16849371 PMID:16895436 PMID:16949108 PMID:17454741 PMID:17517629 PMID:17535832 PMID:17620555 PMID:17637808 PMID:18216301 PMID:18502698 PMID:18504678 PMID:18691441 PMID:18977334 PMID:20211276 PMID:20301353 PMID:20643099 PMID:20978534 PMID:21129724 PMID:21144833 PMID:21296687 PMID:21364701 PMID:22241583 PMID:22780954 PMID:23246842 PMID:24063851 PMID:24146900 PMID:24153443 PMID:24986921 PMID:25741868 PMID:26262956 PMID:26428318 PMID:26467025 PMID:27177320 PMID:27343181 PMID:28187756 PMID:28708239 PMID:28821228 PMID:29330893 PMID:30143805 PMID:32906214 More...
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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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 |
ClinVar |
PMID:1900003 PMID:11479733 PMID:11820805 PMID:12406974 PMID:15286228 PMID:16738010 PMID:18682780 PMID:19370763 PMID:20301353 PMID:25741868 PMID:28187756 PMID:29481798 PMID:30143805 More...
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NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
DNA:mutation ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar RGD |
PMID:6343397 PMID:11456298 PMID:12227465 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:17066297 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:20301353 PMID:25118196 PMID:25741868 PMID:30143805 PMID:14705112 More...
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RGD:5507824 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar |
PMID:1323207 PMID:1469456 PMID:3395302 PMID:8213827 PMID:8644732 PMID:12707444 PMID:14581685 PMID:15972314 PMID:16120329 PMID:17022785 PMID:20301353 PMID:25741868 PMID:28027978 PMID:30143805 More...
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:19394449 PMID:20643099 PMID:29444077 |
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NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
DNA:mutation: exon:m.13513 G>A (D393N)(human) ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:9299505 PMID:10589546 PMID:11102991 PMID:11198278 PMID:11938446 PMID:12624137 PMID:14520659 PMID:14730434 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:17400793 PMID:17535832 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:20301353 PMID:21131053 PMID:22780954 PMID:23463613 PMID:25701779 PMID:25741868 PMID:27422531 PMID:29987491 PMID:30143805 PMID:18495510 More...
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RGD:5491185 |
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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ISO |
DNA:missense mutation: :m.14487T>C (p.M63V) (human) ClinVar Annotator: match by term: Leigh syndrome |
ClinVar RGD |
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11241853 PMID:11781695 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14520668 PMID:14595656 PMID:14735585 PMID:15637703 PMID:15922297 PMID:15954041 PMID:16337195 PMID:16380132 PMID:18524835 PMID:18674747 PMID:19555656 PMID:20301353 PMID:21457906 PMID:21504270 PMID:21838605 PMID:24088041 PMID:25741868 PMID:26633545 PMID:29987491 PMID:30143805 PMID:20019223 More...
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RGD:6482231 |
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
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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 More...
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NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
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G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
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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 chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
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G |
Ndufa12 |
NADH:ubiquinone oxidoreductase subunit A12 |
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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 chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315
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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 chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726
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G |
Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
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G |
Ndufa9 |
NADH:ubiquinone oxidoreductase subunit A9 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
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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: Subacute necrotizing encephalopathy |
ClinVar |
PMID:16200211 PMID:20818383 PMID:22644603 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 More...
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NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
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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 |
PMID:25326635 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29581464 PMID:30473481 PMID:30581749 PMID:32005694 PMID:32348839 PMID:34177781 More...
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NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
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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: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 PMID:33097395 More...
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NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951
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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 chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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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 chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
CTD ClinVar |
PMID:9536098 PMID:14729820 PMID:17576681 PMID:28492532 PMID:33097395 |
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NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
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Ndufs4 |
NADH:ubiquinone oxidoreductase subunit S4 |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome CTD Direct Evidence: marker/mechanism DNA:frameshift mutation:cds:c.426delA (human) DNA:transition:intron:IVS1-1G>A (human) |
ClinVar CTD RGD |
PMID:9463323 PMID:10944442 PMID:11112787 PMID:11181577 PMID:12616398 PMID:12944388 PMID:14765537 PMID:15269216 PMID:16213125 PMID:17383918 PMID:18804471 PMID:19107570 PMID:19364667 PMID:20818383 PMID:22033105 PMID:22200994 PMID:22326555 PMID:24020637 PMID:25741868 PMID:27079373 PMID:28492532 PMID:30634555 PMID:32860008 PMID:34849584 PMID:22535952 PMID:20534480 PMID:22653057 PMID:19107570 PMID:12616398 More...
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RGD:6484662, RGD:12914767, RGD:12914766, RGD:6484698, RGD:6484669 |
NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846
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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:11978605 PMID:12468279 PMID:17604671 PMID:20301745 PMID:25741868 PMID:26024641 PMID:28492532 More...
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NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
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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: Subacute necrotizing encephalopathy |
ClinVar |
PMID:9837812 PMID:20818383 PMID:24595071 PMID:25326637 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
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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:17576681 PMID:20818383 PMID:21364701 PMID:21696386 PMID:23562761 PMID:23631824 PMID:24642831 PMID:25615419 PMID:25741868 PMID:26024641 PMID:26345448 PMID:27126960 PMID:27344648 PMID:28492532 PMID:29353736 PMID:29948731 PMID:29976978 PMID:30090137 PMID:31589614 PMID:31687339 PMID:32348839 PMID:33083013 PMID:34134969 PMID:34716721 PMID:34807224 More...
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NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
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Parl |
presenilin associated, rhomboid-like |
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ISS |
OMIM:220111 | OMIM:256000 |
MouseDO |
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NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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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 |
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NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
DNA:missense mutation:cds:p.R554W (human) 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: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy |
ClinVar RGD |
PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:16798039 PMID:17298551 PMID:17376234 PMID:20484225 PMID:20489732 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22677546 PMID:22904323 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24033266 PMID:24448499 PMID:24781757 PMID:25363768 PMID:25494863 PMID:25525159 PMID:25720320 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26556299 PMID:26689913 PMID:27011036 PMID:27493882 PMID:27895137 PMID:28166811 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28714951 PMID:28724664 PMID:28819017 PMID:28873162 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30050099 PMID:30068732 PMID:30201732 PMID:30276801 PMID:30680959 PMID:30728243 PMID:30877234 PMID:31368675 PMID:31512412 PMID:31527833 PMID:31589614 PMID:31827275 PMID:32462735 PMID:32581362 PMID:33077847 PMID:33372952 PMID:33606809 PMID:33674644 PMID:33960148 PMID:34014604 PMID:35059314 PMID:7550341 More...
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RGD:724604 |
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Sdhc |
succinate dehydrogenase complex subunit C |
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ISS |
OMIM:256000 |
MouseDO |
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NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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G |
Slc19a3 |
solute carrier family 19 member 3 |
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ISO |
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 chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
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G |
Sod2 |
superoxide dismutase 2 |
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ISS |
OMIM:220111 | OMIM:256000 |
MouseDO |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Leigh syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10556302 PMID:10558868 PMID:10636738 PMID:10746561 PMID:11288709 PMID:11317352 PMID:11423010 PMID:12026244 PMID:12812953 PMID:14557577 PMID:15214016 PMID:16199547 PMID:16225813 PMID:16542579 PMID:16765830 PMID:16773507 PMID:17576681 PMID:17908801 PMID:18583168 PMID:19780766 PMID:20624914 PMID:20843780 PMID:21937992 PMID:22488715 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:28429146 PMID:28492532 PMID:28639102 PMID:29933018 PMID:30872186 PMID:31589614 PMID:31967322 PMID:32380162 PMID:32445240 PMID:34943053 PMID:9843204 More...
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RGD:1599193 |
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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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 chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
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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 chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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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 chr11:62,228,990...62,259,389
Ensembl chr11:62,229,058...62,254,699
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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 chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843
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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 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:27290639 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:32313153 More...
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NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
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ISO |
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 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:32962729 PMID:33658040 More...
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NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
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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 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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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:3,904...4,942
Ensembl chr MT:3,904...4,942
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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:11,736...13,565
Ensembl chr MT:11,736...13,565
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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 More...
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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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:1301207 PMID:10679936 PMID:15384102 PMID:15473177 PMID:20002125 PMID:25590979 PMID:25741868 PMID:28492532 More...
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Lipt1 |
lipoyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency |
OMIM ClinVar |
PMID:24256811 PMID:24341803 PMID:25326635 PMID:25741868 PMID:27247813 PMID:28492532 PMID:31042466 PMID:33531667 More...
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NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565
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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:24256811 PMID:24341803 PMID:25326635 PMID:25741868 PMID:27247813 PMID:28492532 PMID:31042466 PMID:33531667 More...
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NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
DNA:point mutation: :m.9185T>C (human) CTD Direct Evidence: marker/mechanism DNA:transversion: :m.8993T>G (human) DNA:point mutation: :m.9176T>C (human) |
CTD RGD |
PMID:27129022 PMID:18461509 PMID:14598233 PMID:15709156 |
RGD:5490262, RGD:5490291, RGD:5490270 |
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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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:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Echs1 |
enoyl-CoA hydratase, short chain 1 |
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ISO |
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:26000322 PMID:26081110 PMID:26099313 PMID:26251176 PMID:26467025 PMID:26938784 PMID:27090768 PMID:27905109 PMID:28039521 PMID:28202214 PMID:28429146 PMID:28492532 PMID:29575569 PMID:30008475 PMID:31216405 PMID:31219693 PMID:32313153 PMID:32642440 PMID:32858208 PMID:33112498 More...
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NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
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G |
Atp5po |
ATP synthase peripheral stalk subunit OSCP |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
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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's necrotizing encephalopathy |
ClinVar |
PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:22277166 PMID:24033266 PMID:25326637 PMID:25741868 PMID:25895478 PMID:28492532 More...
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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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: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
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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 chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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G |
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 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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G |
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:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:28654958 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31589614 PMID:33613441 More...
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NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
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 chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
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G |
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 chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
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G |
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 chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
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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'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: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:20056103 PMID:22577227 PMID:22933740 PMID:24088041 PMID:25741868 PMID:26633545 PMID:31187502 PMID:31379041 PMID:31461494 PMID:32042921 PMID:32313153 PMID:32906214 PMID:35159298 More...
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
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:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 More...
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:32313153 |
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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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:14,136...15,278
Ensembl chr MT:14,136...15,278
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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:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8496715 PMID:11854175 PMID:16738010 PMID:17620555 PMID:17637808 PMID:20301353 PMID:22241583 PMID:25741868 PMID:30143805 More...
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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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:11456298 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:25741868 More...
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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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 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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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 More...
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NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
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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 chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
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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 chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315
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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:20818383 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 More...
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NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
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Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25326635 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29581464 PMID:30473481 PMID:30581749 PMID:34177781 More...
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NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
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Ndufaf6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:25741868 PMID:26741492 PMID:33097395 |
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NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951
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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 chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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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:28492532 PMID:33097395 |
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NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
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Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:11978605 PMID:12468279 PMID:17604671 PMID:20301745 PMID:25741868 PMID:26024641 PMID:28492532 More...
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NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
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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:25741868 PMID:28492532 |
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NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
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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:17576681 PMID:20818383 PMID:21364701 PMID:21696386 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:33083013 PMID:34134969 PMID:34716721 PMID:34807224 More...
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NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
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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 chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy |
ClinVar |
PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 PMID:22904323 PMID:23666964 PMID:24033266 PMID:25363768 PMID:25741868 PMID:26467025 PMID:28384794 PMID:28492532 PMID:28546994 PMID:28714951 PMID:28724664 PMID:30201732 PMID:30680959 PMID:31527833 PMID:32462735 PMID:34014604 PMID:35059314 More...
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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