Details of Disease | DrugMAP

General Information of Disease (ID: DISE3BGM)

Disease Name	Mitochondrial complex 4 deficiency, nuclear type 7
Synonyms	MC4DN7; mitochondrial complex IV deficiency, nuclear type 7
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISE3BGM: Mitochondrial complex 4 deficiency, nuclear type 7
Disease Identifiers	MONDO ID MONDO_0033637 UMLS CUI C5436685 OMIM ID 619051 MedGen ID 1754683

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
COX6B1	OTNKXYQI	Strong	Autosomal recessive	[1]
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References

1	Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22.