Details of Disease | DrugMAP

General Information of Disease (ID: DIS3KC3C)

Disease Name	Combined oxidative phosphorylation deficiency 43
Synonyms	COXPD43; combined oxidative phosphorylation deficiency 43; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DIS3KC3C: Combined oxidative phosphorylation deficiency 43
Disease Identifiers	MONDO ID MONDO_0030017 UMLS CUI C5394284 OMIM ID 618851 MedGen ID 1718250

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
TIMM22	OTJMHX1V	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.