Details of Disease | DrugMAP

General Information of Disease (ID: DIS4OJ40)

Disease Name	Combined oxidative phosphorylation deficiency 39
Synonyms	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DIS4OJ40: Combined oxidative phosphorylation deficiency 39
Disease Identifiers	MONDO ID MONDO_0032726 UMLS CUI C5193075 OMIM ID 618397 MedGen ID 1683958 Orphanet ID 565624 SNOMED CT ID 1279845005

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
GFM2	OT51TIMY	Moderate	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.