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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.


show annotations for term's descendants           Sort by:
 
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:30311386, 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: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
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 Atp5md ATP synthase membrane subunit DAPIT ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 OMIM
ClinVar
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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            mitochondrial metabolism disease 345
              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

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