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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 17
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Accession:DOID:0070502 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the APOPT1 gene on chromosome 14q32.33. (DO)
Synonyms:exact_synonym: MC4DN17
 primary_id: OMIM:619061
 alt_id: DOID:9001849


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mitochondrial complex IV deficiency nuclear type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Bag5 BAG cochaperone 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
G Ckb creatine kinase B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 OMIM
ClinVar		 PMID:25175347 PMID:25741868 PMID:28492532 PMID:29577824 PMID:30724636 NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081 		JBrowse link
G Eif5 eukaryotic translation initiation factor 5 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,589,162...130,597,656
Ensembl chr 6:130,589,143...130,597,656 		JBrowse link
G Exoc3l4 exocyst complex component 3-like 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683 		JBrowse link
G Lbhd2 LBH domain containing 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,442,388...130,447,229
Ensembl chr 6:130,442,388...130,447,229 		JBrowse link
G Mark3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153 		JBrowse link
G Snora28 small nucleolar RNA, H/ACA box 28 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,591,965...130,592,090
Ensembl chr 6:130,591,965...130,592,090 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trmt61a tRNA methyltransferase 61A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar PMID:25175347 PMID:25741868 PMID:29577824 NCBI chr 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        mitochondrial metabolism disease 813
          cytochrome-c oxidase deficiency disease 226
            COX deficiency, benign infantile mitochondrial myopathy 35
              mitochondrial complex IV deficiency nuclear type 17 14
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            mitochondrial metabolism disease 813
              cytochrome-c oxidase deficiency disease 226
                COX deficiency, benign infantile mitochondrial myopathy 35
                  mitochondrial complex IV deficiency nuclear type 17 14
paths to the root