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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:combined oxidative phosphorylation deficiency 7
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Accession:DOID:0111487 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: COXPD7;   severe C12ORF65-related COXPD;   severe C12ORF65-related combined oxidative phosphorylation defect
 primary_id: OMIM:613559
 xref: ORDO:254930
For additional species annotation, visit the Alliance of Genome Resources.



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combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Cdk2ap1 cyclin-dependent kinase 2 associated protein 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,249,783...32,258,483
Ensembl chr12:32,249,747...32,258,479
JBrowse link
G Ddx55 DEAD-box helicase 55 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,034,462...32,050,218
Ensembl chr12:32,034,462...32,050,219
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
JBrowse link
G Gtf2h3 general transcription factor IIH subunit 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497
JBrowse link
G Kmt5a lysine methyltransferase 5A ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,139,353...32,167,777
Ensembl chr12:32,139,178...32,162,711
JBrowse link
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:32,275,449...32,346,097
Ensembl chr12:32,275,558...32,342,392
JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
JBrowse link
G Rilpl1 Rab interacting lysosomal protein-like 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,071,870...32,109,687
Ensembl chr12:32,071,693...32,109,938
JBrowse link
G Rilpl2 Rab interacting lysosomal protein-like 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,125,908...32,137,426
Ensembl chr12:32,125,886...32,137,418
JBrowse link
G Sbno1 strawberry notch homolog 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158
JBrowse link
G Snrnp35 small nuclear ribonucleoprotein U11/U12 subunit 35 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,112,032...32,119,829
Ensembl chr12:32,110,993...32,122,660
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Tmed2 transmembrane p24 trafficking protein 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar PMID:28492532 NCBI chr12:32,052,542...32,061,596
Ensembl chr12:32,052,543...32,071,903
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        mitochondrial metabolism disease 442
          combined oxidative phosphorylation deficiency 83
            combined oxidative phosphorylation deficiency 7 14
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    mitochondrial myopathy 109
                      mitochondrial encephalomyopathy 68
                        combined oxidative phosphorylation deficiency 7 14
paths to the root