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Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25741868 PMID:27597947 PMID:28492532 More...
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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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Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 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 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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Gamt |
guanidinoacetate N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
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NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
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Mrpl36 |
mitochondrial ribosomal protein L36 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
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NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807
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Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
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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Ndufa11 |
NADH:ubiquinone oxidoreductase subunit A11 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:1,550,487...1,554,546
Ensembl chr 9:1,550,468...1,555,601
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Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
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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Ndufaf1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212
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Ndufaf2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25326635 PMID:25741868 PMID:26795593 PMID:27597947 PMID:28492532 PMID:31130284 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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Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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Ndufaf4 |
NADH:ubiquinone oxidoreductase complex assembly factor 4 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:38,605,169...38,610,341
Ensembl chr 5:38,605,153...38,610,336
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Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29261183 PMID:30473481 |
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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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Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:25772934 |
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NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
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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Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22200994 PMID:25741868 PMID:28031252 PMID:28492532 More...
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NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 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: Mitochondrial complex I deficiency, nuclear type 1 |
OMIM ClinVar |
PMID:9463323 PMID:10944442 PMID:11112787 PMID:11181577 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:27671926 PMID:28492532 PMID:30634555 PMID:31292494 PMID:31386302 PMID:32860008 PMID:33093004 PMID:34849584 More...
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NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846
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Ndufs6 |
NADH:ubiquinone oxidoreductase subunit S6 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467
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Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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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: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:20818383 PMID:24595071 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:33233646 PMID:35551192 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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Ndufv1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:17576681 PMID:19073330 PMID:20818383 PMID:22644603 PMID:23562761 PMID:24642831 PMID:25615419 PMID:25741868 PMID:26024641 PMID:26345448 PMID:27344648 PMID:28492532 PMID:29948731 PMID:30090137 PMID:31589614 PMID:31665838 PMID:32180488 PMID:33083013 PMID:33182419 PMID:34134969 PMID:34645491 PMID:34716721 PMID:35482023 PMID:35482246 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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Ndufv2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9570948 PMID:25741868 PMID:28492532 |
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NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
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Nubpl |
NUBP iron-sulfur cluster assembly factor like |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:29982452 |
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NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
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Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
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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Timmdc1 |
translocase of inner mitochondrial membrane domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:62,228,990...62,259,389
Ensembl chr11:62,229,058...62,254,699
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Tmco6 |
transmembrane and coiled-coil domains 6 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
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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Tmem126b |
transmembrane protein 126B |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:144,437,142...144,451,508
Ensembl chr 1:144,437,145...144,451,435
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