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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:mitochondrial complex I deficiency
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Accession:DOID:0060536 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)
Synonyms:exact_synonym: NADH-coenzyme Q reductase deficiency;   NADH:Q(1) oxidoreductase deficiency;   deficiency of mitochondrial NADH dehydrogenase component of complex I;   isolated NADH-CoQ reductase deficiency;   isolated NADH-coenzyme Q reductase deficiency;   isolated NADH-ubiquinone reductase deficiency;   isolated mitochondrial respiratory chain complex I deficiency;   mitochondrial oxidative phosphorylation disorder
 narrow_synonym: NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT;   NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I
 primary_id: MESH:C537475
 xref: GARD:3908;   ORDO:2609
For additional species annotation, visit the Alliance of Genome Resources.



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mitochondrial complex I deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 More... NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISS OMIM:252010 MouseDO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20818383 PMID:25741868 PMID:28492532 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:32,075,880...32,159,728
Ensembl chr14:32,076,114...32,159,728
JBrowse link
G ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:32,075,419...32,076,699
Ensembl chr14:32,074,946...32,076,793
JBrowse link
G C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20818383 PMID:25741868 PMID:28492532 NCBI chr 5:33,986,986...34,124,528
Ensembl chr 5:33,987,174...34,124,528
JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 More... NCBI chr 3:128,909,873...129,026,748
Ensembl chr 3:128,909,866...129,002,690
JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506
JBrowse link
G ELAC2 elaC ribonuclease Z 2 IAGP ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency
ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 NCBI chr17:12,991,612...13,018,027
Ensembl chr17:12,991,612...13,018,065
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP 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:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25741868 More... NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131
JBrowse link
G GAMT guanidinoacetate N-methyltransferase IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:12468279 PMID:25741868 PMID:28492532 NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
JBrowse link
G GPR33 G protein-coupled receptor 33 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
JBrowse link
G HEATR5A HEAT repeat containing 5A IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550
JBrowse link
G HEATR5A-DT HEATR5A divergent transcript IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,420,758...31,452,883
Ensembl chr14:31,420,286...31,452,883
JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,100,117...31,207,793
Ensembl chr14:31,100,117...31,207,804
JBrowse link
G LINC02313 long intergenic non-protein coding RNA 2313 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,944,853...31,950,294
Ensembl chr14:31,944,853...31,950,382
JBrowse link
G LOC112081413 Sharpr-MPRA regulatory region 5992 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr11:68,030,422...68,030,716 JBrowse link
G LOC112267854 Sharpr-MPRA regulatory region 11779 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,270,183...31,270,477 JBrowse link
G LOC121838588 Sharpr-MPRA regulatory region 2273 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,934,703...31,934,997 JBrowse link
G MIR624 microRNA 624 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,014,646...31,014,742
Ensembl chr14:31,014,646...31,014,742
JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:28492532 NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:1857422 PMID:9854792 PMID:12192017 PMID:15781840 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:11456298 PMID:14705112 PMID:17535832 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:8644732 PMID:12707444 PMID:16120329 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Neuropsychiatric disorder and early-onset cataract ClinVar PMID:11723298 PMID:16384802 PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 PMID:25058219 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741892 More... NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236
JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISS
IAGP
OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency
MouseDO
ClinVar
PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 More... NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662
JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP 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:25741868 PMID:28492532 NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743
JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25901006 NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054
JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP 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:25741868 PMID:28492532 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403
JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP 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:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531
JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:19463981 PMID:24033266 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495
JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP 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:18179882 PMID:25741868 PMID:28492532 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891
JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP 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:18940309 PMID:21607760 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580
JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:22277967 PMID:25741868 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP DNA:point mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
ClinVar
RGD
PMID:25326635 PMID:25741868 PMID:28492532 PMID:11349233 RGD:1556706 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP 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:25326637 PMID:25741868 More... NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP 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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP
EXP
ClinVar Annotator: match by term: Mitochondrial complex I deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10944442 PMID:25741868 PMID:28492532 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP
ISS
ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
OMIM:252010
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP 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:12468279 PMID:25741868 PMID:28492532 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589
JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP 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:25741868 PMID:28492532 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644
JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP 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:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:15576045 More... NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554
JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP 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:9570948 PMID:25741868 PMID:28492532 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345
JBrowse link
G NDUFV2-AS1 NDUFV2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr18:9,121,265...9,136,720
Ensembl chr18:9,121,179...9,136,645
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP 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 More... NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224
JBrowse link
G NUBPL-DT NUBPL divergent transcript IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:31,553,499...31,561,331 JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158
JBrowse link
G SERAC1 serine active site containing 1 IAGP ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280
JBrowse link
G SLC25A10 solute carrier family 25 member 10 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:29211846 NCBI chr17:81,712,284...81,721,012
Ensembl chr17:81,712,236...81,721,016
JBrowse link
G STRN3 striatin 3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr14:30,893,804...31,026,379
Ensembl chr14:30,893,799...31,026,401
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
mitochondrial type mitochondrial complex I deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 ClinVar PMID:11456298 PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 More... NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
JBrowse link
nuclear type mitochondrial complex I deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25741868 More... NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:25803036 More... NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131
JBrowse link
G GAMT guanidinoacetate N-methyltransferase IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
JBrowse link
G LOC112081413 Sharpr-MPRA regulatory region 5992 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:24595071 NCBI chr11:68,030,422...68,030,716 JBrowse link
G LOC112552175 Sharpr-MPRA regulatory region 9916 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr19:5,903,678...5,903,972 JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366
JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743
JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,276...5,904,006
JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771
JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403
JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:16200211 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531
JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495
JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891
JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29261183 PMID:30473481 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:22277967 PMID:25741868 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:22200994 PMID:25326637 PMID:25741868 More... NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:33097395 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar
OMIM
PMID:9463323 PMID:10944442 PMID:11181577 PMID:12616398 PMID:12944388 More... NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589
JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:20818383 PMID:24595071 PMID:25741868 PMID:28492532 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644
JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:17576681 More... NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554
JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345
JBrowse link
G NDUFV2-AS1 NDUFV2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr18:9,121,265...9,136,720
Ensembl chr18:9,121,179...9,136,645
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29982452 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090
JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:140,596,530...140,647,732
Ensembl chr 5:140,639,435...140,645,408
JBrowse link
G TMEM126B transmembrane protein 126B IAGP ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539
JBrowse link
nuclear type mitochondrial complex I deficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 ClinVar PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25741868 More... NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 ClinVar
OMIM
PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:20818383 More... NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531
JBrowse link
nuclear type mitochondrial complex I deficiency 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 ClinVar
OMIM
PMID:17557076 PMID:21931170 PMID:25741868 PMID:28492532 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403
JBrowse link
nuclear type mitochondrial complex I deficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 ClinVar
OMIM
PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 More... NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662
JBrowse link
nuclear type mitochondrial complex I deficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 ClinVar
OMIM
PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771
JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 ClinVar PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 NCBI chr 5:140,596,530...140,647,732
Ensembl chr 5:140,639,435...140,645,408
JBrowse link
nuclear type mitochondrial complex I deficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18306244 PMID:25741868 PMID:28492532 More... NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,276...5,904,006
JBrowse link
nuclear type mitochondrial complex I deficiency 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28853723 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891
JBrowse link
nuclear type mitochondrial complex I deficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 ClinVar
OMIM
PMID:18940309 PMID:19542079 PMID:21607760 PMID:25326635 PMID:25356970 More... NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580
JBrowse link
nuclear type mitochondrial complex I deficiency 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 ClinVar
OMIM
PMID:18614015 PMID:22019594 PMID:25741868 PMID:26741492 PMID:27623250 More... NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
JBrowse link
nuclear type mitochondrial complex I deficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 ClinVar
OMIM
PMID:19463981 PMID:24033266 PMID:25741868 PMID:27986404 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495
JBrowse link
nuclear type mitochondrial complex I deficiency 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 ClinVar
OMIM
PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131
JBrowse link
nuclear type mitochondrial complex I deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 ClinVar
OMIM
PMID:9837812 PMID:15159508 PMID:22499348 PMID:25741868 PMID:28492532 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644
JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP
EXP
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003
JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) IAGP ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 More... NCBI chr 3:128,909,873...129,026,748
Ensembl chr 3:128,909,866...129,002,690
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:12951062 PMID:15115610 PMID:15519027 PMID:15936968 PMID:18761664 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
nuclear type mitochondrial complex I deficiency 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DTD2 D-aminoacyl-tRNA deacylase 2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506
JBrowse link
G GPR33 G protein-coupled receptor 33 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
JBrowse link
G HEATR5A HEAT repeat containing 5A IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550
JBrowse link
G HEATR5A-DT HEATR5A divergent transcript IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,420,758...31,452,883
Ensembl chr14:31,420,286...31,452,883
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar
OMIM
PMID:16199547 PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 More... NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224
JBrowse link
G NUBPL-DT NUBPL divergent transcript IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr14:31,553,499...31,561,331 JBrowse link
nuclear type mitochondrial complex I deficiency 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 ClinVar
OMIM
PMID:21150889 PMID:25741868 PMID:28492532 NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743
JBrowse link
nuclear type mitochondrial complex I deficiency 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 OMIM
ClinVar
PMID:21617257 PMID:25741868 PMID:33715266 PMID:35141356 NCBI chr12:94,971,333...95,003,697
Ensembl chr12:94,895,297...95,003,748
JBrowse link
nuclear type mitochondrial complex I deficiency 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTSS1 MTSS I-BAR domain containing 1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 ClinVar NCBI chr 8:124,550,784...124,728,473
Ensembl chr 8:124,550,784...124,728,473
JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 ClinVar
OMIM
PMID:22200994 PMID:28492532 NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648
JBrowse link
nuclear type mitochondrial complex I deficiency 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 ClinVar
OMIM
PMID:22277967 PMID:22499348 PMID:25741868 PMID:28492532 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750
JBrowse link
nuclear type mitochondrial complex I deficiency 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 ClinVar
OMIM
PMID:22114105 PMID:25741868 PMID:28492532 PMID:28671271 NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317
JBrowse link
nuclear type mitochondrial complex I deficiency 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 OMIM
ClinVar
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
JBrowse link
nuclear type mitochondrial complex I deficiency 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 ClinVar
OMIM
PMID:25901006 NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054
JBrowse link
nuclear type mitochondrial complex I deficiency 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM126B transmembrane protein 126B IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 ClinVar
OMIM
PMID:25741868 PMID:27374773 PMID:27374774 PMID:28492532 PMID:29093663 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539
JBrowse link
nuclear type mitochondrial complex I deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 ClinVar
OMIM
PMID:10330338 PMID:15269216 PMID:17275378 PMID:17604671 PMID:25741868 More... NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589
JBrowse link
nuclear type mitochondrial complex I deficiency 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 ClinVar
OMIM
PMID:25741868 PMID:26741492 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
nuclear type mitochondrial complex I deficiency 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 ClinVar
OMIM
PMID:25741868 PMID:28604674 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090
JBrowse link
nuclear type mitochondrial complex I deficiency 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 ClinVar
OMIM
PMID:29429571 NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000
JBrowse link
nuclear type mitochondrial complex I deficiency 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:30245030 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884
JBrowse link
nuclear type mitochondrial complex I deficiency 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 OMIM
ClinVar
PMID:25741868 PMID:31866046 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310
JBrowse link
nuclear type mitochondrial complex I deficiency 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS1 asparaginyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 ClinVar PMID:28040730 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 OMIM
ClinVar
PMID:28040730 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975
JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 OMIM
ClinVar
PMID:25741868 PMID:32969598 NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862
JBrowse link
G NDUFC2-KCTD14 NDUFC2-KCTD14 readthrough IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 ClinVar PMID:25741868 PMID:32969598 NCBI chr11:78,015,715...78,079,862
Ensembl chr11:78,016,971...78,079,865
JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 OMIM
ClinVar
PMID:25741868 PMID:32385911 PMID:33153867 NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779
JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP ClinVar Annotator: match by term: LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:25741868 PMID:33465056 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
nuclear type mitochondrial complex I deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
ClinVar Annotator: match by term: NDUFV1-Related Disorders
ClinVar
OMIM
PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:15576045 More... NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554
JBrowse link
nuclear type mitochondrial complex I deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 ClinVar
OMIM
PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 More... NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
JBrowse link
nuclear type mitochondrial complex I deficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 ClinVar
OMIM
PMID:11220739 PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723
JBrowse link
nuclear type mitochondrial complex I deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 ClinVar
OMIM
PMID:9570948 PMID:25741868 PMID:26008862 PMID:28492532 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345
JBrowse link
G NDUFV2-AS1 NDUFV2 antisense RNA 1 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 ClinVar PMID:25741868 PMID:26008862 NCBI chr18:9,121,265...9,136,720
Ensembl chr18:9,121,179...9,136,645
JBrowse link
nuclear type mitochondrial complex I deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 OMIM
ClinVar
PMID:9536098 PMID:14729820 PMID:17576681 PMID:22499348 PMID:25741868 More... NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
JBrowse link
nuclear type mitochondrial complex I deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPL36 mitochondrial ribosomal protein L36 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 ClinVar NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 ClinVar
OMIM
PMID:9536098 PMID:15372108 PMID:17576681 PMID:19259137 PMID:25741868 More... NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22067
    Nutritional and Metabolic Diseases 7386
      disease of metabolism 7386
        mitochondrial metabolism disease 553
          mitochondrial complex I deficiency 77
            mitochondrial type mitochondrial complex I deficiency + 1
            nuclear type mitochondrial complex I deficiency + 56
Path 2
Term Annotations click to browse term
  disease 22067
    Developmental Disease 16495
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14196
        genetic disease 13570
          inherited metabolic disorder 4945
            mitochondrial metabolism disease 553
              mitochondrial complex I deficiency 77
                mitochondrial type mitochondrial complex I deficiency + 1
                nuclear type mitochondrial complex I deficiency + 56
paths to the root