Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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: OMIM:252010


show annotations for term's descendants           Sort by:
nuclear type mitochondrial complex I deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 PMID:22099533 More... NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:16199547 PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 More... NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr20:57,440,698...57,442,588 JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr34:11,000,509...11,002,204 JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:54,183,584...54,189,435 JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr30:8,436,301...8,452,239
Ensembl chr30:8,423,315...8,452,113 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:16200211 PMID:18180188 PMID:19384974 PMID:20571988 PMID:21924235 More... NCBI chr 2:47,559,002...47,706,704
Ensembl chr 2:47,559,111...47,706,696 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:55,311,482...55,319,879
Ensembl chr12:55,313,148...55,320,381 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29261183 PMID:30473481 NCBI chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:40,744,408...40,746,831
Ensembl chr  X:40,744,408...40,746,837 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:22200994 PMID:25741868 PMID:28031252 More... NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 OMIM
ClinVar		 PMID:9463323 PMID:10944442 PMID:11112787 PMID:11181577 PMID:12616398 More... NCBI chr 4:61,613,580...61,727,219
Ensembl chr 4:61,613,589...61,727,205 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:20818383 PMID:24595071 PMID:25741868 PMID:26764160 PMID:28492532 More... NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:17576681 More... NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9570948 PMID:25741868 PMID:28492532 NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29982452 NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr33:23,153,988...23,175,412
Ensembl chr33:23,154,225...23,175,083 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:35,797,298...35,803,491
Ensembl chr 2:35,797,464...35,803,199 		JBrowse link
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr21:13,813,669...13,820,389
Ensembl chr21:13,813,783...13,820,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Nutritional and Metabolic Diseases 7183
      disease of metabolism 7183
        mitochondrial metabolism disease 817
          mitochondrial complex I deficiency 70
            nuclear type mitochondrial complex I deficiency 53
              nuclear type mitochondrial complex I deficiency 1 27
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          inherited metabolic disorder 5527
            mitochondrial metabolism disease 817
              mitochondrial complex I deficiency 70
                nuclear type mitochondrial complex I deficiency 53
                  nuclear type mitochondrial complex I deficiency 1 27
paths to the root