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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 PMID:18953340 PMID:20335238 PMID:20920610 PMID:21147908 PMID:24033266 More... NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
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 More... 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: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284
JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:21147908 PMID:28492532 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18953340 PMID:20335238 PMID:20920610 More... NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
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 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 OMIM
ClinVar
PMID:20566710 NCBI chr 3:163,259,072...163,261,974
Ensembl chr 3:163,260,476...163,261,450
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 term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 OMIM
ClinVar
PMID:23599390 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761
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, nuclear type 1 OMIM
ClinVar
PMID:14757859 PMID:25741868 PMID:28492532 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        mitochondrial metabolism disease 442
          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 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            mitochondrial metabolism disease 442
              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