Details of Disease | DrugMAP

General Information of Disease (ID: DISM7NKI)

Disease Name	Combined oxidative phosphorylation deficiency 56
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISM7NKI: Combined oxidative phosphorylation deficiency 56
Disease Identifiers	MONDO ID MONDO_0859323 UMLS CUI C5774261 OMIM ID 620139 MedGen ID 1824034

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
TAMM41	OTXBJ9W5	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease. HGG Adv. 2022 Mar 4;3(2):100097. doi: 10.1016/j.xhgg.2022.100097. eCollection 2022 Apr 14.