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ONTOLOGY REPORT - ANNOTATIONS


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
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mitochondrial complex V (ATP synthase) deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 JBrowse link 10 46,768,539 46,783,889 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1d ATP synthase F1 subunit delta JBrowse link 7 12,426,807 12,432,120 RGD:8554872
G Atp5f1e ATP synthase F1 subunit epsilon JBrowse link 3 172,563,105 172,566,007 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 JBrowse link 10 46,768,539 46,783,889 RGD:7240710
RGD:8554872
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1d ATP synthase F1 subunit delta JBrowse link 7 12,426,807 12,432,120 RGD:8554872
RGD:7240710

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