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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 1
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Accession:DOID:9007344 term browser browse the term
Synonyms:exact_synonym: MC4DN1
 primary_id: OMIM:220110
 xref: NCI:C176895
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex IV Deficiency, Nuclear Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 NCBI chr 8:71,324,271...71,357,468
Ensembl chr 8:71,318,244...71,357,466
JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:25741868 PMID:32313153 NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
JBrowse link
G COX20 COX20 Cox2 chaperone homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 NCBI chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862
JBrowse link
G LOC611528 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr20:52,406,154...52,412,552 JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:8630495 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO OMIM NCBI chr 9:49,786,562...49,790,004
Ensembl chr 9:49,786,085...49,790,148
JBrowse link
G TACO1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:19503089 PMID:20727754 PMID:25741868 NCBI chr 9:11,598,207...11,603,357
Ensembl chr 9:11,598,416...11,602,883
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13805
    Nutritional and Metabolic Diseases 4472
      disease of metabolism 4472
        inherited metabolic disorder 2392
          cytochrome-c oxidase deficiency disease 32
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
Path 2
Term Annotations click to browse term
  disease 13805
    Developmental Disease 10354
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8913
        genetic disease 8458
          inherited metabolic disorder 2392
            mitochondrial metabolism disease 391
              cytochrome-c oxidase deficiency disease 32
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
paths to the root