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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 chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
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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 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952
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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 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759
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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 chr16:79,001,488...79,002,781
Ensembl chr16:79,001,549...79,004,358
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G |
NDUFA10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897
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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 2:73,131,029...73,137,921
Ensembl chr 2:73,130,403...73,137,916
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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 chr 2:142,359,000...142,361,126
Ensembl chr 2:142,359,007...142,361,131
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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 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391
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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 chr16:39,770,398...39,950,786
Ensembl chr16:39,770,466...39,950,785
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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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
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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 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:64,038,277...64,044,824
Ensembl chr 1:64,034,406...64,044,800
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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 chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180
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G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
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:41,770,929...41,773,879
Ensembl chr X:41,770,941...41,774,245
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G |
NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676
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G |
NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
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 chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
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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 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
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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 chr16:32,874,418...32,985,638
Ensembl chr16:32,874,450...32,987,828
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G |
NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:78,993,909...79,000,001
Ensembl chr16:78,993,913...79,000,006
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G |
NDUFS7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:77,080,311...77,087,141
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G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
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 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
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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 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
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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 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524
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G |
NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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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 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
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NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498
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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 chr13:140,728,559...140,758,698
Ensembl chr13:140,730,495...140,758,607
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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 chr 2:142,352,006...142,359,040
Ensembl chr 2:142,352,030...142,359,036
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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 9:19,547,664...19,555,247
Ensembl chr 9:19,547,647...19,556,793
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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 chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
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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 chr16:39,770,398...39,950,786
Ensembl chr16:39,770,466...39,950,785
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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 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391
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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:98,219,717...98,223,873
Ensembl chr X:98,219,988...98,223,868
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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 chr 2:142,359,000...142,361,126
Ensembl chr 2:142,359,007...142,361,131
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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 chr 2:142,352,006...142,359,040
Ensembl chr 2:142,352,030...142,359,036
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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 2:73,131,029...73,137,921
Ensembl chr 2:73,130,403...73,137,916
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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 15 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28853723 |
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NCBI chr 1:64,038,277...64,044,824
Ensembl chr 1:64,034,406...64,044,800
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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 chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180
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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 4:41,619,480...41,655,682
Ensembl chr 4:41,621,174...41,655,792
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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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
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G |
FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
|
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 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952
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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 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
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G |
ACAD9 |
acyl-CoA dehydrogenase family member 9 |
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ISO |
ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency |
OMIM ClinVar |
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 chr13:71,374,926...71,422,431
Ensembl chr13:71,374,944...71,427,126
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G |
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 5:94,384,397...94,474,337
Ensembl chr 5:94,384,415...94,474,335
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G |
CFAP92 |
cilia and flagella associated protein 92 (putative) |
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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 chr13:71,420,886...71,493,284
Ensembl chr13:71,423,231...71,492,763
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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 chr16:22,381,001...22,501,052
Ensembl chr16:22,380,326...22,500,998
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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 chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187
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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 3:68,578,207...68,581,995
Ensembl chr 3:68,578,218...68,581,990
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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 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
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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 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
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NUBPL |
NUBP iron-sulfur cluster assembly factor, mitochondrial |
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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 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552
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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 chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897
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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 5:88,292,760...88,317,111
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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 4:14,933,290...15,103,256
Ensembl chr 4:14,933,331...15,103,253
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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 4:15,105,305...15,113,281
Ensembl chr 4:15,105,305...15,113,550
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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 chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
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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 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646
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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 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564
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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 chr 2:58,401,542...58,410,414
Ensembl chr 2:58,401,551...58,411,981
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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 9:19,547,664...19,555,247
Ensembl chr 9:19,547,647...19,556,793
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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 2:77,080,311...77,087,141
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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:41,770,929...41,773,879
Ensembl chr X:41,770,941...41,774,245
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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 chr13:140,728,559...140,758,698
Ensembl chr13:140,730,495...140,758,607
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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 chr14:111,626,827...111,633,548
Ensembl chr14:111,626,097...111,633,564
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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 5:6,562,074...6,567,321
Ensembl chr 5:6,562,011...6,567,647
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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 chr12:1,517,304...1,519,478
Ensembl chr12:1,517,485...1,519,406
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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 chr 1:106,911,267...106,933,105
Ensembl chr 1:106,911,277...106,933,118
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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 chr 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588
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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 9:12,486,488...12,492,507
Ensembl chr 9:12,485,167...12,492,591
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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 1:262,243,225...262,258,186
Ensembl chr 1:262,236,482...262,264,097
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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 chr 3:10,951,173...10,959,935
Ensembl chr 3:10,955,877...10,959,916
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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 chr 2:64,718,892...64,723,631
Ensembl chr 2:64,718,906...64,723,627
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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 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
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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 chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676
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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 chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
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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 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524
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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 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
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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 chr16:79,001,488...79,002,781
Ensembl chr16:79,001,549...79,004,358
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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 chr16:78,993,909...79,000,001
Ensembl chr16:78,993,913...79,000,006
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