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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
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Accession:DOID:0111143 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. (DO)
Synonyms:exact_synonym: mitochondrial complex V (ATP synthase) deficiency, nuclear type
 xref: OMIM:PS604273
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial complex V (ATP synthase) deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type ClinVar NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:7668837 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14998933 PMID:16049925 PMID:16217706 PMID:17352390 PMID:17452590 PMID:18055910 PMID:18461509 PMID:19454486 PMID:19667215 PMID:22933740 PMID:24088041 PMID:25741868 PMID:26633545 PMID:32313153 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
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 term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
ClinVar Annotator: match by term: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:614052
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:30724636 PMID:30950220 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex ClinVar PMID:29478781 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by OMIM:614053 OMIM
ClinVar
PMID:20566710 NCBI chr 3:172,563,105...172,566,007
Ensembl chr 3:172,563,105...172,566,010
JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by OMIM:615228 OMIM
ClinVar
PMID:23599390 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5mk ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 OMIM
ClinVar
PMID:25741868 PMID:29917077 NCBI chr 1:266,859,961...266,866,753
Ensembl chr 1:266,862,579...266,862,842
JBrowse link
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
ClinVar Annotator: match by OMIM:604273
OMIM
ClinVar
PMID:14757859 PMID:25741868 PMID:28492532 NCBI chr10:46,768,539...46,783,889
Ensembl chr10:46,768,539...46,783,889
JBrowse link
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 ClinVar
OMIM
PMID:29478781 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Nutritional and Metabolic Diseases 5273
      disease of metabolism 5273
        mitochondrial metabolism disease 355
          mitochondrial complex V (ATP synthase) deficiency 10
            Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5 1
            mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 1
            mitochondrial complex V (ATP synthase) deficiency nuclear type 2 4
            mitochondrial complex V (ATP synthase) deficiency nuclear type 3 2
            mitochondrial complex V (ATP synthase) deficiency nuclear type 4 1
            mitochondrial complex V (ATP synthase) deficiency nuclear type 6 1
            mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 1
Path 2
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          inherited metabolic disorder 2490
            mitochondrial metabolism disease 355
              mitochondrial complex V (ATP synthase) deficiency 10
                Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5 1
                mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 1
                mitochondrial complex V (ATP synthase) deficiency nuclear type 2 4
                mitochondrial complex V (ATP synthase) deficiency nuclear type 3 2
                mitochondrial complex V (ATP synthase) deficiency nuclear type 4 1
                mitochondrial complex V (ATP synthase) deficiency nuclear type 6 1
                mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 1
paths to the root