Details of Disease | DrugMAP

General Information of Disease (ID: DISG9H1T)

Disease Name	Combined oxidative phosphorylation deficiency 42
Synonyms	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42; combined oxidative phosphorylation deficiency 42
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISG9H1T: Combined oxidative phosphorylation deficiency 42
Disease Identifiers	MONDO ID MONDO_0030008 UMLS CUI C5394237 OMIM ID 618839 MedGen ID 1709379

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
GATC	OTBLY3PP	Limited	Unknown	[1]
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References

1	Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.