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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 IV deficiency nuclear type 17
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Accession:DOID:0070502 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. (DO)
Synonyms:exact_synonym: COA8-RELATED CONDITION;   MC4DN17
 alt_id: DOID:9001849
 xref: MIM:619061;   MONDO:0033652

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mitochondrial complex IV deficiency nuclear type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234 		JBrowse link
G Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936621:1,573,237...1,578,257
Ensembl chrNW_004936621:1,574,033...1,575,376 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936621:1,612,398...1,615,821
Ensembl chrNW_004936621:1,612,393...1,615,822 		JBrowse link
G Eif5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936621:1,772,116...1,779,669
Ensembl chrNW_004936621:1,769,952...1,779,709 		JBrowse link
G Exoc3l4 exocyst complex component 3 like 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936621:1,913,013...1,921,499
Ensembl chrNW_004936621:1,913,339...1,922,202 		JBrowse link
G Lbhd2 LBH domain containing 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824
G Mark3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936621:1,627,846...1,733,041
Ensembl chrNW_004936621:1,627,431...1,733,047 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936835:747,758...798,505
Ensembl chrNW_004936835:747,477...799,703 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936621:1,891,326...1,903,504 JBrowse link
G Traf3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936835:844,747...955,900
Ensembl chrNW_004936835:844,727...950,664 		JBrowse link
G Trmt61a tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chrNW_004936621:1,600,241...1,607,039
Ensembl chrNW_004936621:1,599,309...1,606,939 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    Nutritional and Metabolic Diseases 7078
      disease of metabolism 7078
        mitochondrial metabolism disease 779
          cytochrome-c oxidase deficiency disease 203
            COX deficiency, benign infantile mitochondrial myopathy 38
              mitochondrial complex IV deficiency nuclear type 17 12
Path 2
Term Annotations click to browse term
  disease 14637
    Developmental Disease 12850
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          inherited metabolic disorder 5611
            mitochondrial metabolism disease 779
              cytochrome-c oxidase deficiency disease 203
                COX deficiency, benign infantile mitochondrial myopathy 38
                  mitochondrial complex IV deficiency nuclear type 17 12
paths to the root