Details of Disease | DrugMAP

General Information of Disease (ID: DIS3VT2Q)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 15
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS3VT2Q: Mitochondrial complex 1 deficiency, nuclear type 15
Disease Identifiers	MONDO ID MONDO_0032620 UMLS CUI C4748778 OMIM ID 618237 MedGen ID 1648320

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
NDUFAF4	OTWJ5B9M	Strong	Autosomal recessive	[1]
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References

1	C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet. 2008 Jan;82(1):32-8. doi: 10.1016/j.ajhg.2007.08.003.