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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 chr12:111,713,268...111,755,057
Ensembl chr12:111,713,261...111,755,053
JBrowse link
G Cox10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:25741868 PMID:32313153 NCBI chr11:63,962,627...64,079,472
Ensembl chr11:63,962,627...64,079,468
JBrowse link
G Cox20 cytochrome c oxidase assembly protein 20 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 NCBI chr 1:178,318,095...178,322,693
Ensembl chr 1:178,319,130...178,322,693
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:8630495 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tn tRNA asparagine, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:16908752 PMID:31965079 NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159
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 chr15:89,355,719...89,372,850
Ensembl chr15:89,355,719...89,372,826
JBrowse link
G Pet100 PET100 homolog ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr 8:3,621,551...3,624,235
Ensembl chr 8:3,621,548...3,625,848
JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein 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 chr15:89,371,630...89,373,891
Ensembl chr15:89,371,637...89,373,846
JBrowse link
G Surf1 surfeit gene 1 ISO OMIM NCBI chr 2:26,913,378...26,916,610
Ensembl chr 2:26,913,381...26,916,530
JBrowse link
G Taco1 translational activator of mitochondrially encoded 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 chr11:106,066,057...106,074,035
Ensembl chr11:106,066,061...106,073,612
JBrowse link
G Tymp thymidine phosphorylase 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 chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14517
    Nutritional and Metabolic Diseases 4716
      disease of metabolism 4716
        inherited metabolic disorder 2533
          cytochrome-c oxidase deficiency disease 37
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 12
Path 2
Term Annotations click to browse term
  disease 14517
    Developmental Disease 10790
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9308
        genetic disease 8841
          inherited metabolic disorder 2533
            mitochondrial metabolism disease 424
              cytochrome-c oxidase deficiency disease 37
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 12
paths to the root