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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 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523
JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:25741868 PMID:32313153 NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736
JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,057
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:8630495 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP 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:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:16908752 PMID:31965079 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr22:50,508,218...50,524,780
Ensembl chr22:50,508,224...50,524,780
JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,793...7,631,956
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP OMIM NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
JBrowse link
G TACO1 translational activator of cytochrome c oxidase I IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:19503089 PMID:20727754 PMID:25741868 NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365
JBrowse link
G TYMP thymidine phosphorylase IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    Nutritional and Metabolic Diseases 6024
      disease of metabolism 6024
        inherited metabolic disorder 2961
          cytochrome-c oxidase deficiency disease 40
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 12
Path 2
Term Annotations click to browse term
  disease 20257
    Developmental Disease 13770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11280
        genetic disease 10739
          inherited metabolic disorder 2961
            mitochondrial metabolism disease 484
              cytochrome-c oxidase deficiency disease 40
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 12
paths to the root