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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 ISO 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 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
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 More... NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr20:57,440,698...57,442,588 JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr34:11,000,509...11,002,204 JBrowse link
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 chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901 		JBrowse link
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 chr20:54,183,584...54,189,435 JBrowse link
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 chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531 		JBrowse link
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 chr30:8,436,301...8,452,239
Ensembl chr30:8,423,315...8,452,113 		JBrowse link
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:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:55,311,482...55,319,879
Ensembl chr12:55,313,148...55,320,381 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29261183 PMID:30473481 NCBI chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176 		JBrowse link
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:40,744,408...40,746,831
Ensembl chr  X:40,744,408...40,746,837 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:22277967 PMID:22499348 PMID:25741868 PMID:31000363 NCBI chr37:10,240,109...10,247,487
Ensembl chr37:10,240,213...10,247,486 		JBrowse link
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 chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:22200994 PMID:25741868 PMID:28492532 NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:33097395 NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 OMIM
ClinVar		 PMID:9463323 PMID:10944442 PMID:11181577 PMID:12616398 PMID:12944388 More... NCBI chr 4:61,613,580...61,727,219
Ensembl chr 4:61,613,589...61,727,205 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:20818383 PMID:24595071 PMID:25741868 PMID:28492532 NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO 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 chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29982452 NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chr33:23,153,988...23,175,412
Ensembl chr33:23,154,225...23,175,083 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:35,797,298...35,803,491
Ensembl chr 2:35,797,464...35,803,199 		JBrowse link
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chr21:13,813,669...13,820,389
Ensembl chr21:13,813,783...13,820,314 		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 ISO 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 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar		 PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:20818383 More... NCBI chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 OMIM
ClinVar		 PMID:17557076 PMID:21931170 PMID:25741868 PMID:28492532 NCBI chr30:8,436,301...8,452,239
Ensembl chr30:8,423,315...8,452,113 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 More... NCBI chr  X:91,886,062...91,889,841 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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 OMIM
ClinVar		 PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 NCBI chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO 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 2:35,797,298...35,803,491
Ensembl chr 2:35,797,464...35,803,199 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18306244 PMID:25741868 PMID:28492532 More... NCBI chr20:54,183,584...54,189,435 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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28853723 NCBI chr12:55,311,482...55,319,879
Ensembl chr12:55,313,148...55,320,381 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 OMIM
ClinVar		 PMID:18940309 PMID:19542079 PMID:21607760 PMID:25326635 PMID:25356970 More... NCBI chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 OMIM
ClinVar		 PMID:18614015 PMID:22019594 PMID:25741868 PMID:26741492 PMID:27623250 More... NCBI chr29:39,668,089...39,692,479
Ensembl chr29:39,668,089...39,692,470 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:19463981 PMID:24033266 PMID:25741868 PMID:27986404 NCBI chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 OMIM
ClinVar		 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:9837812 PMID:15159508 PMID:22499348 PMID:25741868 PMID:28492532 NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979 		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 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 More... NCBI chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO 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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 8:10,694,999...10,706,155
Ensembl chr 8:10,696,505...10,706,060 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 8:10,718,470...10,720,029
Ensembl chr 8:10,719,010...10,720,029 		JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 8:10,561,723...10,673,506
Ensembl chr 8:10,562,425...10,658,597 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 OMIM
ClinVar		 PMID:16199547 PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 More... NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 OMIM
ClinVar		 PMID:21150889 PMID:25741868 PMID:28492532 NCBI chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 OMIM
ClinVar		 PMID:21617257 PMID:25741868 PMID:33715266 PMID:35141356 NCBI chr15:34,971,944...34,996,458
Ensembl chr15:34,954,364...34,996,409 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 ClinVar NCBI chr13:22,633,001...22,794,960
Ensembl chr13:22,635,230...22,794,453 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 OMIM
ClinVar		 PMID:22200994 PMID:28492532 NCBI chr13:22,624,929...22,632,310
Ensembl chr13:22,624,945...22,632,310 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 OMIM
ClinVar		 PMID:22277967 PMID:22499348 PMID:25741868 PMID:28492532 PMID:31000363 NCBI chr37:10,240,109...10,247,487
Ensembl chr37:10,240,213...10,247,486 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 OMIM
ClinVar		 PMID:22114105 PMID:25741868 PMID:28492532 PMID:28671271 NCBI chr27:40,176,090...40,217,293
Ensembl chr27:40,167,293...40,217,190 		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 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 More... NCBI chr30:29,388,600...29,415,578
Ensembl chr30:29,388,649...29,450,430 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 OMIM
ClinVar		 PMID:25901006 NCBI chr20:43,721,568...43,730,607
Ensembl chr20:43,721,640...43,730,295 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 OMIM
ClinVar		 PMID:25741868 PMID:27374773 PMID:27374774 PMID:28492532 PMID:29093663 NCBI chr21:13,813,669...13,820,389
Ensembl chr21:13,813,783...13,820,314 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 OMIM
ClinVar		 PMID:10330338 PMID:15269216 PMID:17275378 PMID:17604671 PMID:25741868 More... NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 OMIM
ClinVar		 PMID:25741868 PMID:26741492 NCBI chr  X:40,744,408...40,746,831
Ensembl chr  X:40,744,408...40,746,837 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 OMIM
ClinVar		 PMID:25741868 PMID:28604674 NCBI chr33:23,153,988...23,175,412
Ensembl chr33:23,154,225...23,175,083 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 OMIM
ClinVar		 PMID:29429571 NCBI chr28:13,249,067...13,253,670
Ensembl chr28:13,249,070...13,253,619 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30245030 NCBI chr10:23,283,951...23,292,457
Ensembl chr10:23,283,933...23,292,638 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 OMIM
ClinVar		 PMID:25741868 PMID:31866046 NCBI chr 9:851,903...854,005
Ensembl chr 9:851,923...854,005 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 ClinVar PMID:28040730 NCBI chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 OMIM
ClinVar		 PMID:28040730 NCBI chr 6:38,968,737...38,971,214
Ensembl chr 6:38,968,742...38,971,196 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 OMIM
ClinVar		 PMID:25741868 PMID:32969598 NCBI chr21:20,748,452...20,758,236 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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 OMIM
ClinVar		 PMID:25741868 PMID:32385911 PMID:33153867 NCBI chr 9:60,404,486...60,418,234
Ensembl chr 9:60,404,379...60,418,236 		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 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:33465056 NCBI chr 6:6,595,233...6,596,440
Ensembl chr 6:6,595,294...6,595,974 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders OMIM
ClinVar		 PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:15576045 More... NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 OMIM
ClinVar		 PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 More... NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 OMIM
ClinVar		 PMID:11220739 PMID:22200994 PMID:25741868 PMID:28492532 PMID:31411514 NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 OMIM
ClinVar		 PMID:9570948 PMID:25741868 PMID:26008862 PMID:28492532 NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 OMIM
ClinVar		 PMID:9536098 PMID:14729820 PMID:17576681 PMID:22499348 PMID:25741868 More... NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921 		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 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 ClinVar NCBI chr34:11,000,509...11,002,204 JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 OMIM
ClinVar		 PMID:9536098 PMID:15372108 PMID:17576681 PMID:19259137 PMID:25741868 More... NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14734
    Nutritional and Metabolic Diseases 5683
      disease of metabolism 5683
        mitochondrial metabolism disease 438
          mitochondrial complex I deficiency 63
            nuclear type mitochondrial complex I deficiency 50
              Nuclear Type Mitochondrial Complex I Deficiency 36 1
              Nuclear Type Mitochondrial Complex I Deficiency 37 1
              Nuclear Type Mitochondrial Complex I Deficiency 38 1
              nuclear type mitochondrial complex I deficiency 1 28
              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 4
              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 1
              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 14734
    Developmental Disease 11932
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10648
        genetic disease 10201
          inherited metabolic disorder 3956
            mitochondrial metabolism disease 438
              mitochondrial complex I deficiency 63
                nuclear type mitochondrial complex I deficiency 50
                  Nuclear Type Mitochondrial Complex I Deficiency 36 1
                  Nuclear Type Mitochondrial Complex I Deficiency 37 1
                  Nuclear Type Mitochondrial Complex I Deficiency 38 1
                  nuclear type mitochondrial complex I deficiency 1 28
                  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 4
                  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 1
                  nuclear type mitochondrial complex I deficiency 8 1
                  nuclear type mitochondrial complex I deficiency 9 2
paths to the root