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.


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 LOC100976808 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 chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667
JBrowse link
G LOC100980340 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 chr17:37,443,319...37,582,436
Ensembl chr17:42,091,452...42,274,762
JBrowse link
G LOC100983451 surfeit locus protein 1 ISO OMIM NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904
JBrowse link
G LOC100983712 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 chr19:6,919,469...6,921,359 JBrowse link
G LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 NCBI chr 1:220,432,447...220,440,416
Ensembl chr 1:225,812,621...225,820,925
JBrowse link
G LOC100994669 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 NCBI chr14:84,189,323...84,217,230
Ensembl chr14:104,000,692...104,027,230
JBrowse link
G LOC100995944 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 chr17:57,680,741...57,688,235
Ensembl chr17:62,827,083...62,833,925
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 chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027
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 chr22:30,772,088...30,776,618 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13850
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        inherited metabolic disorder 2349
          cytochrome-c oxidase deficiency disease 30
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
Path 2
Term Annotations click to browse term
  disease 13850
    Developmental Disease 10374
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8933
        genetic disease 8474
          inherited metabolic disorder 2349
            mitochondrial metabolism disease 377
              cytochrome-c oxidase deficiency disease 30
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
paths to the root