Details of Disease | DrugMAP

General Information of Disease (ID: DISDHFT7)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 32
Synonyms	MC1DN32; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISDHFT7: Mitochondrial complex 1 deficiency, nuclear type 32
Disease Identifiers	MONDO ID MONDO_0032635 UMLS CUI C4748839 OMIM ID 618252 MedGen ID 1648336

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
NDUFB8	OTW4A4Q0	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.