Details of Disease

General Information of Disease (ID: DIS0V261)

Disease Name Combined oxidative phosphorylation deficiency 22
Synonyms COXPD22; combined oxidative phosphorylation deficiency type 22; combined oxidative phosphorylation deficiency 22
Disease Hierarchy
DISX6N3H: Mitochondrial proton-transporting ATP synthase complex deficiency
DIS0V261: Combined oxidative phosphorylation deficiency 22
Disease Identifiers
MONDO ID
MONDO_0020727
UMLS CUI
C4015062
OMIM ID
616045
MedGen ID
863499

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP5F1A OT3FZDLX Limited Unknown [1]
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References

1 The modifier of Min 2 (Mom2) locus: embryonic lethality of a mutation in the Atp5a1 gene suggests a novel mechanism of polyp suppression. Genome Res. 2007 May;17(5):566-76. doi: 10.1101/gr.6089707. Epub 2007 Mar 26.