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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:25741868 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISS OMIM:252010 MouseDO NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087 		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 chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326 		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 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:73,345,129...73,408,304
Ensembl chr 6:73,345,392...73,405,880 		JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency		 ClinVar PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28654958 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:12468279 PMID:25741868 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848 		JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170 		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 6:72,509,658...72,596,285
Ensembl chr 6:72,510,255...72,596,446 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:28492532 NCBI chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466
Ensembl chr 1:31,261,370...31,262,466 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by null ClinVar PMID:1857422 PMID:9854792 PMID:12192017 PMID:15781840 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		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:15576045 PMID:16120329 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		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 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		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 PMID:28492532 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISS
ISO		 OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency		 MouseDO
ClinVar		 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25901006 NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 NCBI chr 3:111,458,227...111,469,239
Ensembl chr 3:111,458,572...111,469,518 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF		 ClinVar PMID:16200211 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by OMIM:252010 ClinVar PMID:19463981 PMID:24033266 NCBI chr 8:117,351,628...117,353,460
Ensembl chr 8:117,351,629...117,353,672 		JBrowse link
G Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency		 ClinVar PMID:18179882 PMID:28492532 NCBI chr 5:39,251,370...39,256,542
Ensembl chr 5:39,251,337...39,257,512 		JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21607760 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:25741868 NCBI chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289 		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:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524 		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 chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO DNA:point mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Mitochondrial complex I deficiency		 ClinVar PMID:25326635 PMID:25741868, PMID:11349233 RGD:1556706 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF		 ClinVar PMID:20819849 PMID:22200994 PMID:24215330 PMID:25741868 PMID:28492532 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar Annotator: match by OMIM:252010		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10944442 PMID:25741868 NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO
ISS		 ClinVar Annotator: match by OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency		 ClinVar
MouseDO		 PMID:28492532 NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:12468279 PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF		 ClinVar PMID:10080174 PMID:11349233 PMID:20818383 PMID:21696386 PMID:23562761 PMID:25741868 PMID:26345448 PMID:27126960 PMID:29976978 PMID:31687339 PMID:32348839 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency		 ClinVar PMID:9570948 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190 		JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by OMIM:252010
ClinVar Annotator: match by term: Mitochondrial complex I deficiency
ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder		 ClinVar PMID:20818383 PMID:21681106 PMID:22072591 PMID:23553477 PMID:23828044 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26633545 PMID:28492532 PMID:29982452 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536 		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 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:32576985 NCBI chr 1:40,948,843...40,982,669
Ensembl chr 1:40,948,847...40,972,826 		JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder ClinVar PMID:24033266 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261 		JBrowse link
G Slc25a10 solute carrier family 25 member 10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:29211846 NCBI chr10:109,665,682...109,674,782
Ensembl chr10:109,665,682...109,673,143 		JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency ClinVar PMID:21681106 NCBI chr 6:72,376,360...72,462,676
Ensembl chr 6:72,376,330...72,462,658 		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 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464 		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 PMID:15576045 PMID:16023078 PMID:17152068 PMID:17413873 PMID:17535832 PMID:19458970 PMID:25741868 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		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 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr13:89,622,996...89,632,485
Ensembl chr13:89,622,632...89,634,419 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		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 PMID:28492532 PMID:28654958 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466
Ensembl chr 1:31,261,370...31,262,466 		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 chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813 		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 9:10,334,104...10,338,163
Ensembl chr 9:10,334,090...10,338,216 		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 chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760 		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 3:111,458,227...111,469,239
Ensembl chr 3:111,458,572...111,469,518 		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:25326635 PMID:25741868 PMID:26795593 PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560 		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:28492532 NCBI chr 8:117,351,628...117,353,460
Ensembl chr 8:117,351,629...117,353,672 		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:28492532 NCBI chr 5:39,251,370...39,256,542
Ensembl chr 5:39,251,337...39,257,512 		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 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973 		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:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524 		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 chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702 		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 chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182 		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:22200994 PMID:25741868 PMID:28492532 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398 		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:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar
OMIM		 PMID:9463323 PMID:10944442 PMID:11181577 PMID:12616398 PMID:12944388 PMID:17383918 PMID:19107570 PMID:19364667 PMID:20818383 PMID:24020637 PMID:25741868 PMID:28492532 NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584 		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:28492532 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		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 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610 		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:10080174 PMID:11349233 PMID:19073330 PMID:23562761 PMID:24642831 PMID:25741868 PMID:26345448 PMID:28492532 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448 		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:28492532 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190 		JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536 		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 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr18:29,579,145...29,585,740
Ensembl chr18:29,579,145...29,585,740 		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:27597947 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 ClinVar
OMIM		 PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:20818383 PMID:21924235 PMID:22099533 PMID:25326635 PMID:25741868 PMID:26795593 PMID:27597947 PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560 		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 ClinVar
OMIM		 PMID:17557076 PMID:21931170 NCBI chr 3:111,458,227...111,469,239
Ensembl chr 3:111,458,572...111,469,518 		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 ClinVar
OMIM		 PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705 		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 ClinVar
OMIM		 PMID:18513682 PMID:25741868 PMID:27159321 PMID:28857146 PMID:32154054 NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760 		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 chr18:29,579,145...29,585,740
Ensembl chr18:29,579,145...29,585,740 		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 ClinVar
OMIM		 PMID:18306244 NCBI chr 9:10,334,104...10,338,163
Ensembl chr 9:10,334,090...10,338,216 		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 5:39,251,370...39,256,542
Ensembl chr 5:39,251,337...39,257,512 		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 ClinVar
OMIM		 PMID:18940309 PMID:19542079 PMID:21607760 PMID:25741868 PMID:28492532 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973 		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 ClinVar
OMIM		 PMID:18614015 PMID:22019594 PMID:25741868 PMID:26741492 PMID:27623250 PMID:28492532 PMID:29531337 PMID:30642748 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786 		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 ClinVar
OMIM		 PMID:19463981 PMID:25741868 PMID:27986404 NCBI chr 8:117,351,628...117,353,460
Ensembl chr 8:117,351,629...117,353,672 		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 ClinVar
OMIM		 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 PMID:25678554 PMID:25741868 PMID:28654958 PMID:30723688 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612 		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 ClinVar
OMIM		 PMID:9837812 PMID:15159508 PMID:22499348 PMID:25741868 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610 		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 family, member 9, deficiency of
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:611126		 OMIM
ClinVar
CTD		 PMID:7599230 PMID:17564966 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26669660 PMID:27233227 PMID:27290639 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:32313153 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of ClinVar PMID:21057504 PMID:22499348 PMID:25326637 PMID:27233227 PMID:28492532 NCBI chr 4:119,572,669...119,626,852 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 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830 		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 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848 		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 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170 		JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar
OMIM		 PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:24088041 PMID:25741868 PMID:26633545 PMID:29982452 PMID:31917109 PMID:32518176 PMID:33224084 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536 		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 ClinVar
OMIM		 PMID:21150889 PMID:26741492 NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813 		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 ClinVar
OMIM		 PMID:21617257 NCBI chr 7:35,125,516...35,163,182
Ensembl chr 7:35,125,424...35,167,406 		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 7:98,820,799...98,960,878
Ensembl chr 7:98,820,812...98,960,837 		JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 ClinVar
OMIM		 PMID:22200994 NCBI chr 7:98,813,062...98,819,408
Ensembl chr 7:98,813,040...98,819,452 		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 ClinVar
OMIM		 PMID:22277967 PMID:22499348 PMID:25741868 NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702 		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 ClinVar
OMIM		 PMID:22114105 PMID:28671271 NCBI chr 4:159,371,263...159,399,636
Ensembl chr 4:159,371,259...159,399,634 		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 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		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 ClinVar
OMIM		 PMID:25901006 NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246 		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 ClinVar
OMIM		 PMID:25741868 PMID:27374773 PMID:27374774 NCBI chr 1:156,262,220...156,274,207
Ensembl chr 1:156,262,031...156,275,002 		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 ClinVar
OMIM		 PMID:10330338 PMID:15269216 PMID:17275378 PMID:17604671 PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392 		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 ClinVar
OMIM		 PMID:25741868 PMID:26741492 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524 		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 ClinVar
OMIM		 PMID:25741868 PMID:28604674 NCBI chr11:64,790,801...64,815,484
Ensembl chr11:64,790,801...64,815,477 		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 ClinVar
OMIM		 PMID:29429571 NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762 		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 ClinVar
OMIM		 PMID:30245030 NCBI chr 7:123,583,062...123,586,919
Ensembl chr 7:123,583,062...123,586,919 		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 chr10:109,278,712...109,280,863
Ensembl chr10:109,278,712...109,280,863 		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 chr18:59,986,350...60,002,644
Ensembl chr18:59,986,360...60,002,569 		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 chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289 		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 OMIM NCBI chr 1:162,369,801...162,376,024
Ensembl chr 1:162,369,801...162,376,023 		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
OMIM		 PMID:10080174 PMID:11349233 PMID:25741868 PMID:26345448 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448 		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 ClinVar
OMIM		 PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 PMID:21203893 PMID:21458341 PMID:25741868 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182 		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 ClinVar
OMIM		 PMID:11220739 PMID:22200994 PMID:25741868 PMID:28492532 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398 		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 ClinVar
OMIM		 PMID:9570948 PMID:26008862 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190 		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:14729820 PMID:22499348 PMID:25741868 PMID:28492532 PMID:30140060 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879 		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 chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466
Ensembl chr 1:31,261,370...31,262,466 		JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 ClinVar
OMIM		 PMID:15372108 PMID:19259137 PMID:25741868 NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mitochondrial metabolism disease 350
          mitochondrial complex I deficiency 61
            mitochondrial type mitochondrial complex I deficiency + 1
            nuclear type mitochondrial complex I deficiency + 48
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            mitochondrial metabolism disease 350
              mitochondrial complex I deficiency 61
                mitochondrial type mitochondrial complex I deficiency + 1
                nuclear type mitochondrial complex I deficiency + 48
paths to the root