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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 1
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Accession:DOID:0112074 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (DO)
Synonyms:exact_synonym: MC1DN1
 primary_id: MIM:252010

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nuclear type mitochondrial complex I deficiency 1 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 1 ClinVar PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 More... NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424 		JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chrNW_004955504:890,779...891,343 JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695 		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 chrNW_004955495:3,557,016...3,564,999
Ensembl chrNW_004955495:3,557,016...3,564,999 		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 chrNW_004955418:52,952...55,060
Ensembl chrNW_004955418:52,952...55,060 		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 chrNW_004955416:8,210,198...8,222,986
Ensembl chrNW_004955416:8,210,410...8,217,138 		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:18180188 PMID:19384974 PMID:20571988 PMID:21924235 More... NCBI chrNW_004955446:7,345,467...7,439,885 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 chrNW_004955532:1,045,854...1,046,738
Ensembl chrNW_004955532:1,045,852...1,046,594 		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 PMID:36135330 NCBI chrNW_004955411:22,878,031...22,882,723
Ensembl chrNW_004955411:22,878,595...22,882,770 		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:27817865 PMID:28492532 PMID:29261183 PMID:30473481 More... NCBI chrNW_004955415:23,221,084...23,263,548
Ensembl chrNW_004955415:23,221,084...23,262,073 		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 chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207 		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:11349233 PMID:22200994 PMID:25741868 PMID:28492532 PMID:31178897 NCBI chrNW_004955457:8,838,216...8,879,059
Ensembl chrNW_004955457:8,838,216...8,883,481 		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:28031252 More... NCBI chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095 		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:25741868 PMID:28492532 PMID:33097395 NCBI chrNW_004955422:713,370...717,926
Ensembl chrNW_004955422:709,784...717,926 		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:11112787 PMID:11181577 PMID:12616398 More... NCBI chrNW_004955446:13,764,907...13,864,824
Ensembl chrNW_004955446:13,764,907...13,864,824 		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 chrNW_004955504:893,112...903,282
Ensembl chrNW_004955504:893,112...903,282 		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 chrNW_004955495:6,540,360...6,548,072
Ensembl chrNW_004955495:6,540,450...6,547,975 		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:26764160 PMID:28492532 More... NCBI chrNW_004955422:17,781,374...17,785,395
Ensembl chrNW_004955422:17,781,204...17,784,404 		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 chrNW_004955422:17,876,496...17,881,773
Ensembl chrNW_004955422:17,873,872...17,881,773 		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 chrNW_004955402:2,802,366...2,818,049
Ensembl chrNW_004955402:2,800,447...2,818,375 		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:24033266 PMID:25741868 PMID:28492532 PMID:29982452 NCBI chrNW_004955409:28,873,609...29,073,196
Ensembl chrNW_004955409:28,872,189...29,073,206 		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 PMID:25741868 NCBI chrNW_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003 		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 PMID:28492532 NCBI chrNW_004955427:19,208,029...19,234,763
Ensembl chrNW_004955427:19,209,857...19,235,097 		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 chrNW_004955418:55,110...61,670
Ensembl chrNW_004955418:55,110...61,705 		JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955414:7,235,864...7,245,595
Ensembl chrNW_004955414:7,234,610...7,245,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    Nutritional and Metabolic Diseases 6994
      disease of metabolism 6994
        mitochondrial metabolism disease 776
          mitochondrial complex I deficiency 65
            nuclear type mitochondrial complex I deficiency 52
              nuclear type mitochondrial complex I deficiency 1 26
Path 2
Term Annotations click to browse term
  disease 14341
    Developmental Disease 12613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          inherited metabolic disorder 5536
            mitochondrial metabolism disease 776
              mitochondrial complex I deficiency 65
                nuclear type mitochondrial complex I deficiency 52
                  nuclear type mitochondrial complex I deficiency 1 26
paths to the root