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G |
Acad9 |
acyl-CoA dehydrogenase family, member 9 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISS |
OMIM:252010 |
MouseDO |
|
|
NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
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G |
Amacr |
alpha-methylacyl-CoA racemase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:20818383 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
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G |
Ap4s1 |
adaptor related protein complex 4 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847
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G |
Arhgap5 |
Rho GTPase activating protein 5 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:73,345,129...73,408,304
Ensembl chr 6:73,345,392...73,405,880
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G |
Dtd2 |
D-aminoacyl-tRNA deacylase 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
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G |
Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
|
|
NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by OMIM:252010 ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28654958 |
|
NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
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G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:12468279 PMID:25741868 |
|
NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
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G |
Gpr33 |
G protein-coupled receptor 33 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
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|
G |
Heatr5a |
HEAT repeat containing 5A |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
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|
G |
Hectd1 |
HECT domain E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:72,509,658...72,596,285
Ensembl chr 6:72,510,255...72,596,446
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G |
Mrpl36 |
mitochondrial ribosomal protein L36 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466 Ensembl chr 1:31,261,370...31,262,466
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|
G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by null |
ClinVar |
PMID:1857422 PMID:9854792 PMID:12192017 PMID:15781840 |
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NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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|
G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:8644732 PMID:12707444 PMID:15576045 PMID:16120329 |
|
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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|
G |
Mtfmt |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder |
ClinVar |
PMID:24033266 PMID:25058219 |
|
NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
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|
G |
Mto1 |
mitochondrial tRNA translation optimization 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder |
ClinVar |
PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741892 PMID:28492532 |
|
NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISS ISO |
OMIM:252010 ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
MouseDO ClinVar |
PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 |
|
NCBI chr X:123,803,109...123,806,760
Ensembl chr X:124,513,269...124,516,705 Ensembl chr X:124,513,269...124,516,705
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G |
Ndufa10 |
NADH:ubiquinone oxidoreductase subunit A10 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
|
|
NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813
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G |
Ndufa13 |
NADH:ubiquinone oxidoreductase subunit A13 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:25901006 |
|
NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246
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G |
Ndufaf1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:111,458,227...111,469,239
Ensembl chr 3:111,458,572...111,469,518
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G |
Ndufaf2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF |
ClinVar |
PMID:16200211 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 |
|
NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
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G |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by OMIM:252010 |
ClinVar |
PMID:19463981 PMID:24033266 |
|
NCBI chr 8:117,351,628...117,353,460
Ensembl chr 8:117,351,629...117,353,672
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|
G |
Ndufaf4 |
NADH:ubiquinone oxidoreductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by OMIM:252010 ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:18179882 PMID:28492532 |
|
NCBI chr 5:39,251,370...39,256,542
Ensembl chr 5:39,251,337...39,257,512
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G |
Ndufaf5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21607760 PMID:25326635 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
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|
G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF |
ClinVar |
PMID:25741868 PMID:25772934 |
|
NCBI chr X:1,787,266...1,789,524
Ensembl chr X:1,787,266...1,789,524
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:22277967 PMID:25741868 |
|
NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
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G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
DNA:point mutations, deletions:cds:multiple (human) ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:25326635 PMID:25741868, PMID:11349233 |
RGD:1556706 |
NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF |
ClinVar |
PMID:20819849 PMID:22200994 PMID:24215330 PMID:25741868 PMID:28492532 |
|
NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
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G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar Annotator: match by OMIM:252010 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
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G |
Ndufs4 |
NADH:ubiquinone oxidoreductase subunit S4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:10944442 PMID:25741868 |
|
NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
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G |
Ndufs6 |
NADH:ubiquinone oxidoreductase subunit S6 |
|
ISO ISS |
ClinVar Annotator: match by OMIM:252010 ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar MouseDO |
PMID:28492532 |
|
NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584
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G |
Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:12468279 PMID:25741868 |
|
NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
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|
G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
|
|
NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
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G |
Ndufv1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
|
ISO |
ClinVar Annotator: match by OMIM:252010 ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF |
ClinVar |
PMID:10080174 PMID:11349233 PMID:20818383 PMID:21696386 PMID:23562761 PMID:25741868 PMID:26345448 PMID:27126960 PMID:29976978 PMID:31687339 PMID:32348839 |
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NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
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G |
Ndufv2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
|
ISO |
ClinVar Annotator: match by OMIM:252010 ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:9570948 |
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NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
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G |
Nubpl |
nucleotide binding protein-like |
|
ISO |
ClinVar Annotator: match by OMIM:252010 ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder |
ClinVar |
PMID:20818383 PMID:21681106 PMID:22072591 PMID:23553477 PMID:23828044 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26633545 PMID:28492532 PMID:29982452 |
|
NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
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G |
Rmnd1 |
required for meiotic nuclear division 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder |
ClinVar |
PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:32576985 |
|
NCBI chr 1:40,948,843...40,982,669
Ensembl chr 1:40,948,847...40,972,826
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G |
Serac1 |
serine active site containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder |
ClinVar |
PMID:24033266 |
|
NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
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G |
Slc25a10 |
solute carrier family 25 member 10 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:29211846 |
|
NCBI chr10:109,665,682...109,674,782
Ensembl chr10:109,665,682...109,673,143
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G |
Strn3 |
striatin 3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency |
ClinVar |
PMID:21681106 |
|
NCBI chr 6:72,376,360...72,462,676
Ensembl chr 6:72,376,330...72,462,658
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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 |
ClinVar |
|
|
NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 |
ClinVar |
PMID:11456298 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:15576045 PMID:16023078 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:25741868 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
|
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NCBI chr13:89,622,996...89,632,485
Ensembl chr13:89,622,632...89,634,419
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G |
Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
|
|
NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
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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:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28654958 |
|
NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
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|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
|
|
NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
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G |
Mrpl36 |
mitochondrial ribosomal protein L36 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
|
|
NCBI chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466 Ensembl chr 1:31,261,370...31,262,466
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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 |
|
NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813
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|
G |
Ndufa11 |
NADH:ubiquinone oxidoreductase subunit A11 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:10,334,104...10,338,163
Ensembl chr 9:10,334,090...10,338,216
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G |
Ndufa2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
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G |
Ndufaf1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:111,458,227...111,469,239
Ensembl chr 3:111,458,572...111,469,518
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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 1 |
ClinVar |
PMID:16200211 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 |
|
NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
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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:28492532 |
|
NCBI chr 8:117,351,628...117,353,460
Ensembl chr 8:117,351,629...117,353,672
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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:28492532 |
|
NCBI chr 5:39,251,370...39,256,542
Ensembl chr 5:39,251,337...39,257,512
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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 |
|
NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
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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 |
|
NCBI chr X:1,787,266...1,789,524
Ensembl chr X:1,787,266...1,789,524
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 |
ClinVar |
PMID:22277967 PMID:25741868 |
|
NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
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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 |
|
NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
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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:22200994 PMID:25741868 PMID:28492532 |
|
NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
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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:28492532 |
|
NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
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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 |
ClinVar OMIM |
PMID:9463323 PMID:10944442 PMID:11181577 PMID:12616398 PMID:12944388 PMID:17383918 PMID:19107570 PMID:19364667 PMID:20818383 PMID:24020637 PMID:25741868 PMID:28492532 |
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NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
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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:28492532 |
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NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584
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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:28492532 |
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NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
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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:28492532 |
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NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
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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:10080174 PMID:11349233 PMID:19073330 PMID:23562761 PMID:24642831 PMID:25741868 PMID:26345448 PMID:28492532 |
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NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
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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:28492532 |
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NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
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G |
Nubpl |
nucleotide binding protein-like |
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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 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
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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 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
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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 |
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NCBI chr18:29,579,145...29,585,740
Ensembl chr18:29,579,145...29,585,740
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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:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:27597947 |
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NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
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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 10 |
ClinVar OMIM |
PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:20818383 PMID:21924235 PMID:22099533 PMID:25326635 PMID:25741868 PMID:26795593 PMID:27597947 PMID:28492532 |
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NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
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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 |
ClinVar OMIM |
PMID:17557076 PMID:21931170 |
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NCBI chr 3:111,458,227...111,469,239
Ensembl chr 3:111,458,572...111,469,518
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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 |
ClinVar OMIM |
PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 |
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NCBI chr X:123,803,109...123,806,760
Ensembl chr X:124,513,269...124,516,705 Ensembl chr X:124,513,269...124,516,705
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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 |
ClinVar OMIM |
PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 |
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NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
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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 chr18:29,579,145...29,585,740
Ensembl chr18:29,579,145...29,585,740
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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 14 |
ClinVar OMIM |
PMID:18306244 |
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NCBI chr 9:10,334,104...10,338,163
Ensembl chr 9:10,334,090...10,338,216
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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 5:39,251,370...39,256,542
Ensembl chr 5:39,251,337...39,257,512
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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 |
ClinVar OMIM |
PMID:18940309 PMID:19542079 PMID:21607760 PMID:25741868 PMID:28492532 |
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NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
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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 |
ClinVar OMIM |
PMID:18614015 PMID:22019594 PMID:25741868 PMID:26741492 PMID:27623250 PMID:28492532 PMID:29531337 PMID:30642748 |
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NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
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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 |
ClinVar OMIM |
PMID:19463981 PMID:25741868 PMID:27986404 |
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NCBI chr 8:117,351,628...117,353,460
Ensembl chr 8:117,351,629...117,353,672
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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 |
ClinVar OMIM |
PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:28654958 PMID:30723688 |
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NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
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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 |
ClinVar OMIM |
PMID:9837812 PMID:15159508 PMID:22499348 PMID:25741868 |
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NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
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G |
Acad9 |
acyl-CoA dehydrogenase family, member 9 |
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ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:611126 |
OMIM ClinVar CTD |
PMID:7599230 PMID:17564966 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26669660 PMID:27233227 PMID:27290639 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:32313153 |
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NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
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G |
Cfap92 |
cilia and flagella associated protein 92 |
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ISO |
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of |
ClinVar |
PMID:21057504 PMID:22499348 PMID:25326637 PMID:27233227 PMID:28492532 |
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NCBI chr 4:119,572,669...119,626,852
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G |
Dtd2 |
D-aminoacyl-tRNA deacylase 2 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
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G |
Gpr33 |
G protein-coupled receptor 33 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
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G |
Heatr5a |
HEAT repeat containing 5A |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 |
ClinVar |
PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 |
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NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
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G |
Nubpl |
nucleotide binding protein-like |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 |
ClinVar OMIM |
PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:24088041 PMID:25741868 PMID:26633545 PMID:29982452 PMID:31917109 PMID:32518176 PMID:33224084 |
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NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
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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 22 |
ClinVar OMIM |
PMID:21150889 PMID:26741492 |
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NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813
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G |
Ndufa12 |
NADH:ubiquinone oxidoreductase subunit A12 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 |
ClinVar OMIM |
PMID:21617257 |
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NCBI chr 7:35,125,516...35,163,182
Ensembl chr 7:35,125,424...35,167,406
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G |
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 7:98,820,799...98,960,878
Ensembl chr 7:98,820,812...98,960,837
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G |
Ndufb9 |
NADH:ubiquinone oxidoreductase subunit B9 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 |
ClinVar OMIM |
PMID:22200994 |
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NCBI chr 7:98,813,062...98,819,408
Ensembl chr 7:98,813,040...98,819,452
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 |
ClinVar OMIM |
PMID:22277967 PMID:22499348 PMID:25741868 |
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NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
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G |
Ndufa9 |
NADH:ubiquinone oxidoreductase subunit A9 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 |
ClinVar OMIM |
PMID:22114105 PMID:28671271 |
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NCBI chr 4:159,371,263...159,399,636
Ensembl chr 4:159,371,259...159,399,634
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G |
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 |
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NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
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G |
Ndufa13 |
NADH:ubiquinone oxidoreductase subunit A13 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 |
ClinVar OMIM |
PMID:25901006 |
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NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246
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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 29 |
ClinVar OMIM |
PMID:25741868 PMID:27374773 PMID:27374774 |
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NCBI chr 1:156,262,220...156,274,207
Ensembl chr 1:156,262,031...156,275,002
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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 3 |
ClinVar OMIM |
PMID:10330338 PMID:15269216 PMID:17275378 PMID:17604671 PMID:25741868 |
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NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
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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 30 |
ClinVar OMIM |
PMID:25741868 PMID:26741492 |
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NCBI chr X:1,787,266...1,789,524
Ensembl chr X:1,787,266...1,789,524
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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 31 |
ClinVar OMIM |
PMID:25741868 PMID:28604674 |
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NCBI chr11:64,790,801...64,815,484
Ensembl chr11:64,790,801...64,815,477
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G |
Ndufb8 |
NADH:ubiquinone oxidoreductase subunit B8 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 |
ClinVar OMIM |
PMID:29429571 |
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NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762
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G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 |
ClinVar OMIM |
PMID:30245030 |
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NCBI chr 7:123,583,062...123,586,919
Ensembl chr 7:123,583,062...123,586,919
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G |
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 chr10:109,278,712...109,280,863
Ensembl chr10:109,278,712...109,280,863
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G |
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 chr18:59,986,350...60,002,644
Ensembl chr18:59,986,360...60,002,569
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G |
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 chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289
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G |
Ndufc2 |
NADH:ubiquinone oxidoreductase subunit C2 |
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ISO |
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OMIM |
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NCBI chr 1:162,369,801...162,376,024
Ensembl chr 1:162,369,801...162,376,023
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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 4 |
ClinVar OMIM |
PMID:10080174 PMID:11349233 PMID:25741868 PMID:26345448 |
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NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
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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 5 |
ClinVar OMIM |
PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 PMID:21203893 PMID:21458341 PMID:25741868 |
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NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
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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 6 |
ClinVar OMIM |
PMID:11220739 PMID:22200994 PMID:25741868 PMID:28492532 |
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NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
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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 7 |
ClinVar OMIM |
PMID:9570948 PMID:26008862 |
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NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
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G |
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:14729820 PMID:22499348 PMID:25741868 PMID:28492532 PMID:30140060 |
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NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
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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 9 |
ClinVar |
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NCBI chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466 Ensembl chr 1:31,261,370...31,262,466
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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 9 |
ClinVar OMIM |
PMID:15372108 PMID:19259137 PMID:25741868 |
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NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584
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