Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
Mitochondrial Complex IV Deficiency, Nuclear Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apopt1 apoptogenic 1, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 NCBI chrNW_004955538:2,415,781...2,432,742
Ensembl chrNW_004955538:2,415,604...2,434,658
JBrowse link
G LOC102016346 cytochrome c oxidase protein 20 homolog ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 NCBI chrNW_004955406:7,994,226...8,002,639 JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:25741868 PMID:32313153 NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778
JBrowse link
G LOC102024671 translational activator of cytochrome c oxidase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:19503089 PMID:20727754 PMID:25741868 NCBI chrNW_004955478:8,198,563...8,204,820
Ensembl chrNW_004955478:8,199,244...8,204,577
JBrowse link
G LOC106146232 protein SCO2 homolog, mitochondrial 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 chrNW_004955413:33,503,882...33,505,417 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 chrNW_004955413:33,492,348...33,503,804 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 chrNW_004955563:1,628,746...1,630,307
Ensembl chrNW_004955563:1,628,746...1,630,307
JBrowse link
G Surf1 surfeit 1 ISO OMIM NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566
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 chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12744
    Nutritional and Metabolic Diseases 4174
      disease of metabolism 4174
        inherited metabolic disorder 2245
          cytochrome-c oxidase deficiency disease 30
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
Path 2
Term Annotations click to browse term
  disease 12744
    Developmental Disease 9641
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8392
        genetic disease 7967
          inherited metabolic disorder 2245
            mitochondrial metabolism disease 371
              cytochrome-c oxidase deficiency disease 30
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
paths to the root