Details of Disease | DrugMAP

General Information of Disease (ID: DISIY7IA)

Disease Name	Mitochondrial complex 4 deficiency, nuclear type 20
Synonyms	MC4DN20; mitochondrial complex IV deficiency, nuclear type 20
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISIY7IA: Mitochondrial complex 4 deficiency, nuclear type 20
Disease Identifiers	MONDO ID MONDO_0033655 UMLS CUI C5436726 OMIM ID 619064 MedGen ID 1771040

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
COX5A	OTP0961M	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.