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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 V (ATP synthase) deficiency nuclear type 2
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Accession:DOID:0060331 term browser browse the term
Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO)
Synonyms:exact_synonym: MC5DN2;   NUCLEARLY-ENCODED MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY 2;   mitochondrial complex V (ATP synthase) deficiency, TMEM70 type;   neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
 primary_id: MESH:C567528
 alt_id: OMIM:614052
 xref: ICD10CM:G71.3;   ORDO:1194
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 ClinVar PMID:28492532 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 ClinVar PMID:28492532 NCBI chr 5:1,417,414...1,511,754
Ensembl chr 5:1,417,478...1,511,416
JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 ClinVar PMID:28492532 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by OMIM:614052
ClinVar Annotator: match by term: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY
ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
OMIM
ClinVar
PMID:18953340, PMID:20335238, PMID:20920610, PMID:20937241, PMID:21147908, PMID:21815885, PMID:22433607, PMID:24033266, PMID:24485043, PMID:24740313, PMID:25326274, PMID:25741868, PMID:25825456, PMID:26550569, PMID:28492532, PMID:30311386, PMID:30724636, PMID:30950220 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          mitochondrial complex V (ATP synthase) deficiency 10
            mitochondrial complex V (ATP synthase) deficiency nuclear type 2 4
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 51
                        mitochondrial complex V (ATP synthase) deficiency nuclear type 2 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.