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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: 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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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 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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G |
Gamt |
guanidinoacetate N-methyltransferase |
|
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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G |
Ndufaf4 |
NADH:ubiquinone oxidoreductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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G |
Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29261183 PMID:30473481 |
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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 |
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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G |
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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G |
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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G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 |
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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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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 10 |
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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G |
Ndufaf2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 |
OMIM ClinVar |
PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:20818383 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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G |
Ndufaf1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 |
OMIM ClinVar |
PMID:17557076 PMID:21931170 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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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 |
OMIM ClinVar |
PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 More...
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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G |
Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 |
OMIM ClinVar |
PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 |
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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 |
Tmco6 |
transmembrane and coiled-coil domains 6 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 |
ClinVar |
PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 |
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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 |
Ndufa11 |
NADH:ubiquinone oxidoreductase subunit A11 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18306244 PMID:25741868 PMID:28492532 PMID:32712949 More...
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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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G |
Ndufaf4 |
NADH:ubiquinone oxidoreductase complex assembly factor 4 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28853723 |
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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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G |
Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18940309 PMID:19542079 PMID:21607760 PMID:23536703 PMID:25326635 PMID:25356970 PMID:25741868 PMID:26275793 PMID:26467025 PMID:28454995 PMID:28492532 PMID:29261183 PMID:29581464 PMID:30473481 PMID:30581749 PMID:31130284 PMID:32918965 PMID:34177781 PMID:34645488 PMID:34732400 PMID:34797029 PMID:34964562 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: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18614015 PMID:22019594 PMID:25741868 PMID:26741492 PMID:27623250 PMID:28492532 PMID:28639102 PMID:29531337 PMID:30642748 PMID:31665838 PMID:31967322 PMID:32348839 PMID:33097395 PMID:37377599 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 |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 |
OMIM ClinVar |
PMID:19463981 PMID:25741868 PMID:27986404 PMID:28492532 PMID:34656053 PMID:37572574 More...
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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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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 |
OMIM ClinVar |
PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:27215383 PMID:28097321 PMID:28492532 PMID:28654958 PMID:29142257 PMID:30723688 PMID:30956948 PMID:31065540 PMID:31434271 PMID:31589614 PMID:32573669 PMID:32964447 PMID:33613441 PMID:35628876 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 |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 |
OMIM ClinVar |
PMID:9837812 PMID:15159508 PMID:20818383 PMID:22499348 PMID:23430795 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:32445240 PMID:33233646 PMID:34052969 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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G |
Acad9 |
acyl-CoA dehydrogenase family, member 9 |
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ISO ISS |
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM:611126 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:23836383 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26467025 PMID:26475292 PMID:26669660 PMID:27233227 PMID:27290639 PMID:27438479 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:30831263 PMID:31658717 PMID:31665838 PMID:32313153 PMID:32746448 PMID:33027564 PMID:34023438 PMID:34440436 More...
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NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
ClinVar |
PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Cfap92 |
cilia and flagella associated protein 92 |
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ISO |
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:27233227 PMID:28492532 PMID:30025539 PMID:30831263 PMID:32746448 More...
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NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29146704 PMID:33176815 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:9536098 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:19466712 PMID:23736532 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26490104 PMID:28492532 PMID:28497568 PMID:30679815 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Mogs |
mannosyl-oligosaccharide glucosidase |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:24716661 |
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NCBI chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032
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G |
Mybpc3 |
myosin binding protein C3 |
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ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 PMID:15358028 PMID:15519027 PMID:15856146 PMID:16715312 PMID:18403758 PMID:18409188 PMID:18957093 PMID:19150014 PMID:19659763 PMID:20019025 PMID:20624503 PMID:21185001 PMID:21239446 PMID:21638988 PMID:22267749 PMID:22455086 PMID:22857948 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24510615 PMID:24704860 PMID:25031304 PMID:25741868 PMID:26671970 PMID:27532257 PMID:27688314 PMID:27737317 PMID:28024942 PMID:28492532 PMID:28615295 PMID:29121657 PMID:29447731 PMID:30847666 PMID:30871747 PMID:31447099 PMID:33673806 PMID:35535697 More...
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 |
ClinVar |
PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 PMID:26387595 PMID:28492532 PMID:29220678 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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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 21 | ClinVar Annotator: match by term: NUBPL-related condition |
OMIM ClinVar |
PMID:16199547 PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:24033266 PMID:24088041 PMID:25245479 PMID:25356970 PMID:25741868 PMID:26633545 PMID:28492532 PMID:29417091 PMID:29982452 PMID:30897263 PMID:31787496 PMID:31917109 PMID:32518176 More...
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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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Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 |
OMIM ClinVar |
PMID:21150889 PMID:22972949 PMID:25741868 PMID:28247337 PMID:28492532 PMID:33233646 PMID:34827632 PMID:34828274 More...
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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: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 |
OMIM ClinVar |
PMID:21617257 PMID:25741868 PMID:28454995 PMID:28492532 PMID:32341820 PMID:33715266 PMID:35141356 More...
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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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Mtss1 |
MTSS I-BAR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 |
ClinVar |
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NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968
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Ndufb9 |
NADH:ubiquinone oxidoreductase subunit B9 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 |
OMIM ClinVar |
PMID:22200994 PMID:25741868 PMID:28492532 |
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NCBI chr 7:90,480,948...90,487,367
Ensembl chr 7:90,436,621...90,488,009
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Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 |
OMIM ClinVar |
PMID:22277967 PMID:22499348 PMID:25741868 PMID:26467025 PMID:26795593 PMID:27091925 PMID:28492532 PMID:31000363 More...
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NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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Ndufa9 |
NADH:ubiquinone oxidoreductase subunit A9 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: NDUFA9-related condition |
OMIM ClinVar |
PMID:22114105 PMID:25741868 PMID:28492532 PMID:28671271 |
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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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Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 |
OMIM ClinVar |
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30087118 PMID:30369941 PMID:30911575 PMID:32577402 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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Ndufa13 |
NADH:ubiquinone oxidoreductase subunit A13 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 |
OMIM ClinVar |
PMID:25741868 PMID:25901006 |
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NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726
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Tmem126b |
transmembrane protein 126B |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 |
OMIM ClinVar |
PMID:25741868 PMID:27290639 PMID:27374773 PMID:27374774 PMID:28492532 PMID:29093663 PMID:30369941 PMID:31658717 More...
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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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Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 |
OMIM ClinVar |
PMID:10330338 PMID:10360771 PMID:11004438 PMID:15269216 PMID:17275378 PMID:17604671 PMID:25741868 PMID:26024641 PMID:28492532 PMID:30369941 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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Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 |
OMIM ClinVar |
PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 PMID:30423443 PMID:31243186 More...
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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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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 31 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28604674 PMID:33278652 PMID:33586140 PMID:35091571 More...
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NCBI chr11:62,228,990...62,259,389
Ensembl chr11:62,229,058...62,254,699
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Ndufb8 |
NADH:ubiquinone oxidoreductase subunit B8 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429571 |
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NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817
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Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30245030 PMID:30847515 |
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NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
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Ndufaf8 |
NADH:ubiquinone oxidoreductase complex assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 |
OMIM ClinVar |
PMID:25741868 PMID:31866046 |
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NCBI chr10:105,381,491...105,383,643
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Nars1 |
asparaginyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 |
ClinVar |
PMID:28040730 |
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NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622
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Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 |
OMIM ClinVar |
PMID:28040730 |
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NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
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Ndufc2 |
NADH:ubiquinone oxidoreductase subunit C2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 |
OMIM ClinVar |
PMID:25741868 PMID:32969598 |
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NCBI chr 1:151,711,965...151,718,188
Ensembl chr 1:151,711,901...151,718,189
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Ndufa8 |
NADH:ubiquinone oxidoreductase subunit A8 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 |
OMIM ClinVar |
PMID:25741868 PMID:32385911 PMID:33153867 |
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NCBI chr 3:19,386,062...19,402,090
Ensembl chr 3:19,386,065...19,402,071
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Dnajc30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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ISO |
ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:37579815 More...
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NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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Ndufb7 |
NADH:ubiquinone oxidoreductase subunit B7 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39 |
ClinVar OMIM |
PMID:25741868 PMID:33502047 |
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NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579
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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 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders | ClinVar Annotator: match by term: NDUFV1-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 PMID:15576045 PMID:17576681 PMID:19073330 PMID:20818383 PMID:21364701 PMID:21696386 PMID:22644603 PMID:23266820 PMID:23334465 PMID:23562761 PMID:23631824 PMID:25615419 PMID:25741868 PMID:26024641 PMID:26345448 PMID:27126960 PMID:27344648 PMID:28454995 PMID:28492532 PMID:29353736 PMID:29948731 PMID:29976978 PMID:30090137 PMID:30770271 PMID:31589614 PMID:31665838 PMID:32180488 PMID:32445240 PMID:33083013 PMID:33182419 PMID:33258288 PMID:34134969 PMID:34645491 PMID:34716721 PMID:34807224 PMID:34906502 PMID:35482023 PMID:35482246 PMID:35586607 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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Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: NDUFS1-related condition |
OMIM ClinVar |
PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 PMID:21203893 PMID:21458341 PMID:22200994 PMID:25615419 PMID:25741868 PMID:28492532 PMID:33547378 PMID:34716721 PMID:35012964 More...
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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 6 |
OMIM ClinVar |
PMID:9536098 PMID:11220739 PMID:17576681 PMID:20818383 PMID:20819849 PMID:22200994 PMID:25741868 PMID:28031252 PMID:28492532 PMID:31411514 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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Ndufv2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 |
OMIM ClinVar |
PMID:9570948 PMID:25741868 PMID:26008862 PMID:28492532 PMID:30369941 |
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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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Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 |
OMIM ClinVar |
PMID:9536098 PMID:14729820 PMID:17576681 PMID:22499348 PMID:25741868 PMID:28492532 PMID:30140060 PMID:33097395 More...
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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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Mrpl36 |
mitochondrial ribosomal protein L36 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Ndufs6 |
NADH:ubiquinone oxidoreductase subunit S6 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 |
OMIM ClinVar |
PMID:9536098 PMID:15372108 PMID:17576681 PMID:19259137 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28429146 PMID:28490743 PMID:28492532 PMID:30948790 More...
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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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