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Standards Ontologies Notations
combined oxidative phosphorylation deficiency 22

Summary
Synonym
  • COXPD22
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.
Super Class
autosomal recessive disease combined oxidative phosphorylation deficiency
Disease Ontology
DOID:0111498
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
498 ATP5F1A ATP synthase F1 subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
11946 Atp5f1a ATP synthase F1 subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
65262 Atp5f1a ATP synthase F1 subunit alpha
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024