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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:nuclear type mitochondrial complex I deficiency
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Accession:DOID:0112065 term browser browse the term
Definition:A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. (DO)
Synonyms:exact_synonym: MC1DN
 xref: OMIM:PS252010
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
            nuclear type mitochondrial complex I deficiency 56
              Nuclear Type Mitochondrial Complex I Deficiency 36 2
              Nuclear Type Mitochondrial Complex I Deficiency 37 1
              Nuclear Type Mitochondrial Complex I Deficiency 38 1
              nuclear type mitochondrial complex I deficiency 1 31
              nuclear type mitochondrial complex I deficiency 10 2
              nuclear type mitochondrial complex I deficiency 11 1
              nuclear type mitochondrial complex I deficiency 12 1
              nuclear type mitochondrial complex I deficiency 13 2
              nuclear type mitochondrial complex I deficiency 14 1
              nuclear type mitochondrial complex I deficiency 15 1
              nuclear type mitochondrial complex I deficiency 16 1
              nuclear type mitochondrial complex I deficiency 17 1
              nuclear type mitochondrial complex I deficiency 18 1
              nuclear type mitochondrial complex I deficiency 19 1
              nuclear type mitochondrial complex I deficiency 2 1
              nuclear type mitochondrial complex I deficiency 20 3
              nuclear type mitochondrial complex I deficiency 21 6
              nuclear type mitochondrial complex I deficiency 22 1
              nuclear type mitochondrial complex I deficiency 23 1
              nuclear type mitochondrial complex I deficiency 24 2
              nuclear type mitochondrial complex I deficiency 25 1
              nuclear type mitochondrial complex I deficiency 26 1
              nuclear type mitochondrial complex I deficiency 27 1
              nuclear type mitochondrial complex I deficiency 28 1
              nuclear type mitochondrial complex I deficiency 29 1
              nuclear type mitochondrial complex I deficiency 3 1
              nuclear type mitochondrial complex I deficiency 30 1
              nuclear type mitochondrial complex I deficiency 31 1
              nuclear type mitochondrial complex I deficiency 32 1
              nuclear type mitochondrial complex I deficiency 33 1
              nuclear type mitochondrial complex I deficiency 34 1
              nuclear type mitochondrial complex I deficiency 35 2
              nuclear type mitochondrial complex I deficiency 4 1
              nuclear type mitochondrial complex I deficiency 5 1
              nuclear type mitochondrial complex I deficiency 6 1
              nuclear type mitochondrial complex I deficiency 7 2
              nuclear type mitochondrial complex I deficiency 8 1
              nuclear type mitochondrial complex I deficiency 9 2
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
                nuclear type mitochondrial complex I deficiency 56
                  Nuclear Type Mitochondrial Complex I Deficiency 36 2
                  Nuclear Type Mitochondrial Complex I Deficiency 37 1
                  Nuclear Type Mitochondrial Complex I Deficiency 38 1
                  nuclear type mitochondrial complex I deficiency 1 31
                  nuclear type mitochondrial complex I deficiency 10 2
                  nuclear type mitochondrial complex I deficiency 11 1
                  nuclear type mitochondrial complex I deficiency 12 1
                  nuclear type mitochondrial complex I deficiency 13 2
                  nuclear type mitochondrial complex I deficiency 14 1
                  nuclear type mitochondrial complex I deficiency 15 1
                  nuclear type mitochondrial complex I deficiency 16 1
                  nuclear type mitochondrial complex I deficiency 17 1
                  nuclear type mitochondrial complex I deficiency 18 1
                  nuclear type mitochondrial complex I deficiency 19 1
                  nuclear type mitochondrial complex I deficiency 2 1
                  nuclear type mitochondrial complex I deficiency 20 3
                  nuclear type mitochondrial complex I deficiency 21 6
                  nuclear type mitochondrial complex I deficiency 22 1
                  nuclear type mitochondrial complex I deficiency 23 1
                  nuclear type mitochondrial complex I deficiency 24 2
                  nuclear type mitochondrial complex I deficiency 25 1
                  nuclear type mitochondrial complex I deficiency 26 1
                  nuclear type mitochondrial complex I deficiency 27 1
                  nuclear type mitochondrial complex I deficiency 28 1
                  nuclear type mitochondrial complex I deficiency 29 1
                  nuclear type mitochondrial complex I deficiency 3 1
                  nuclear type mitochondrial complex I deficiency 30 1
                  nuclear type mitochondrial complex I deficiency 31 1
                  nuclear type mitochondrial complex I deficiency 32 1
                  nuclear type mitochondrial complex I deficiency 33 1
                  nuclear type mitochondrial complex I deficiency 34 1
                  nuclear type mitochondrial complex I deficiency 35 2
                  nuclear type mitochondrial complex I deficiency 4 1
                  nuclear type mitochondrial complex I deficiency 5 1
                  nuclear type mitochondrial complex I deficiency 6 1
                  nuclear type mitochondrial complex I deficiency 7 2
                  nuclear type mitochondrial complex I deficiency 8 1
                  nuclear type mitochondrial complex I deficiency 9 2
paths to the root