Details of Disease | DrugMAP

General Information of Disease (ID: DISXH312)

Disease Name	Combined oxidative phosphorylation deficiency 57
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISXH312: Combined oxidative phosphorylation deficiency 57
Disease Identifiers	MONDO ID MONDO_0859337 UMLS CUI C5774275 OMIM ID 620167 MedGen ID 1824048

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
CRLS1	OT7XNL0K	Strong	Autosomal recessive	[1]
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References

1	Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Hum Mol Genet. 2022 Oct 28;31(21):3597-3612. doi: 10.1093/hmg/ddac040.