Details of Disease | DrugMAP

General Information of Disease (ID: DISVL2EP)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 35
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
Disease Hierarchy	DISYKSRF: Genetic disease DISVL2EP: Mitochondrial complex 1 deficiency, nuclear type 35
Disease Identifiers	MONDO ID MONDO_0033560 UMLS CUI C5436576 OMIM ID 619003 MedGen ID 1745427

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
NDUFB10	OTFLILEO	Limited	Unknown	[1]
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References

1	Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431.