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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 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 More... NCBI chr13:71,374,926...71,422,431
Ensembl chr13:71,374,944...71,427,126
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20818383 PMID:25741868 PMID:28492532 NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722
JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197
JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25326637 PMID:25721401 More... NCBI chr13:71,420,886...71,493,284
Ensembl chr13:71,423,231...71,492,763
JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 7:68,105,268...68,118,220
Ensembl chr 7:68,106,224...68,116,986
JBrowse link
G ELAC2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency ClinVar PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 NCBI chr12:57,206,596...57,238,438
Ensembl chr12:57,206,600...57,238,444
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 PMID:25741868 More... NCBI chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:12468279 PMID:25741868 PMID:28492532 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759
JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895
JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 7:68,143,597...68,259,087
Ensembl chr 7:68,211,624...68,259,794
JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 7:68,318,167...68,422,403
Ensembl chr 7:68,318,417...68,422,394
JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:28492532 NCBI chr16:79,001,488...79,002,781
Ensembl chr16:79,001,549...79,004,358
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:11456298 PMID:14705112 PMID:17535832 NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:8644732 PMID:12707444 PMID:16120329 NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 PMID:25058219 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564
JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741892 More... NCBI chr 1:92,447,156...92,472,488
Ensembl chr 1:92,447,164...92,483,236
JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:1857422 PMID:9854792 PMID:12192017 PMID:15781840 NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128
JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 More... NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868
JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897
JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25901006 NCBI chr 2:58,401,542...58,410,414
Ensembl chr 2:58,401,551...58,411,981
JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391
JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:16200211 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr16:39,770,398...39,950,786
Ensembl chr16:39,770,466...39,950,785
JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:19463981 PMID:24033266 NCBI chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:18179882 PMID:25741868 PMID:28492532 NCBI chr 1:64,038,277...64,044,824
Ensembl chr 1:64,034,406...64,044,800
JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:18940309 PMID:21607760 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180
JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 NCBI chr 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:22277967 PMID:25741868 NCBI chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:20819849 PMID:22200994 PMID:24215330 PMID:25326637 PMID:25741868 More... NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:10944442 PMID:25741868 PMID:28492532 NCBI chr16:32,874,418...32,985,638
Ensembl chr16:32,874,450...32,987,828
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr16:78,993,909...79,000,001
Ensembl chr16:78,993,913...79,000,006
JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:12468279 PMID:25741868 PMID:28492532 NCBI chr 2:77,080,311...77,087,141 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:15576045 More... NCBI chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524
JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO 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 chr 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552
JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... NCBI chr 1:14,795,632...14,852,026
Ensembl chr 1:14,795,674...14,855,069
JBrowse link
G SERAC1 serine active site containing 1 ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770
JBrowse link
G SLC25A10 solute carrier family 25 member 10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 PMID:29211846 NCBI chr12:1,191,242...1,197,439
Ensembl chr12:1,189,903...1,197,301
JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 7:68,470,761...68,577,272
Ensembl chr 7:68,470,877...68,577,273
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 ClinVar NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498
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 ISO 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:10,653...10,998
Ensembl chr MT:10,653...10,998
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 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 chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
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 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759
JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr16:79,001,488...79,002,781
Ensembl chr16:79,001,549...79,004,358
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 chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897
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 chr 2:73,131,029...73,137,921
Ensembl chr 2:73,130,403...73,137,916
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 2:142,359,000...142,361,126
Ensembl chr 2:142,359,007...142,361,131
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 chr 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391
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 chr16:39,770,398...39,950,786
Ensembl chr16:39,770,466...39,950,785
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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
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 chr 1:64,038,277...64,044,824
Ensembl chr 1:64,034,406...64,044,800
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 chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180
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:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245
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:25741868 NCBI chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
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 chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676
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:25326637 PMID:25741868 More... NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
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 chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
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 chr16:32,874,418...32,985,638
Ensembl chr16:32,874,450...32,987,828
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 chr16:78,993,909...79,000,001
Ensembl chr16:78,993,913...79,000,006
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 chr 2:77,080,311...77,087,141 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 chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
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 chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
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 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524
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 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552
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 chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498
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 chr13:140,728,559...140,758,698
Ensembl chr13:140,730,495...140,758,607
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 2:142,352,006...142,359,040
Ensembl chr 2:142,352,030...142,359,036
JBrowse link
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chr 9:19,547,664...19,555,247
Ensembl chr 9:19,547,647...19,556,793
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 chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
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 chr16:39,770,398...39,950,786
Ensembl chr16:39,770,466...39,950,785
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 chr 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391
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:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868
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 2:142,359,000...142,361,126
Ensembl chr 2:142,359,007...142,361,131
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 2:142,352,006...142,359,040
Ensembl chr 2:142,352,030...142,359,036
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 chr 2:73,131,029...73,137,921
Ensembl chr 2:73,130,403...73,137,916
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 chr 1:64,038,277...64,044,824
Ensembl chr 1:64,034,406...64,044,800
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 chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180
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 chr 4:41,619,480...41,655,682
Ensembl chr 4:41,621,174...41,655,792
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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
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 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952
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 chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
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 chr13:71,374,926...71,422,431
Ensembl chr13:71,374,944...71,427,126
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 chr13:71,420,886...71,493,284
Ensembl chr13:71,423,231...71,492,763
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of ClinVar PMID:12951062 PMID:15115610 PMID:15519027 PMID:15936968 PMID:18761664 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
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 7:68,105,268...68,118,220
Ensembl chr 7:68,106,224...68,116,986
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 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895
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 7:68,143,597...68,259,087
Ensembl chr 7:68,211,624...68,259,794
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 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552
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 chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897
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 chr 5:88,292,760...88,317,111 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 chr 4:14,933,290...15,103,256
Ensembl chr 4:14,933,331...15,103,253
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 chr 4:15,105,305...15,113,281
Ensembl chr 4:15,105,305...15,113,550
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 NCBI chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
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 chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646
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 chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564
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 chr 2:58,401,542...58,410,414
Ensembl chr 2:58,401,551...58,411,981
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 chr 9:19,547,664...19,555,247
Ensembl chr 9:19,547,647...19,556,793
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 chr 2:77,080,311...77,087,141 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:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245
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 chr13:140,728,559...140,758,698
Ensembl chr13:140,730,495...140,758,607
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 chr14:111,626,827...111,633,548
Ensembl chr14:111,626,097...111,633,564
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 chr 5:6,562,074...6,567,321
Ensembl chr 5:6,562,011...6,567,647
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 chr12:1,517,304...1,519,478
Ensembl chr12:1,517,485...1,519,406
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 1:106,911,267...106,933,105
Ensembl chr 1:106,911,277...106,933,118
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 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588
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 chr 9:12,486,488...12,492,507
Ensembl chr 9:12,485,167...12,492,591
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 1:262,243,225...262,258,186
Ensembl chr 1:262,236,482...262,264,097
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 3:10,951,173...10,959,935
Ensembl chr 3:10,955,877...10,959,916
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 chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
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 chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676
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:25326637 PMID:25741868 PMID:28492532 More... NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
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 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524
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 chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
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 chr16:79,001,488...79,002,781
Ensembl chr16:79,001,549...79,004,358
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 chr16:78,993,909...79,000,001
Ensembl chr16:78,993,913...79,000,006
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14396
    Nutritional and Metabolic Diseases 5592
      disease of metabolism 5592
        mitochondrial metabolism disease 437
          mitochondrial complex I deficiency 63
            mitochondrial type mitochondrial complex I deficiency + 1
            nuclear type mitochondrial complex I deficiency + 50
Path 2
Term Annotations click to browse term
  disease 14396
    Developmental Disease 11674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10443
        genetic disease 10018
          inherited metabolic disorder 3890
            mitochondrial metabolism disease 437
              mitochondrial complex I deficiency 63
                mitochondrial type mitochondrial complex I deficiency + 1
                nuclear type mitochondrial complex I deficiency + 50
paths to the root