Details of Disease | DrugMAP

General Information of Disease (ID: DIS5WUK9)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 36
Synonyms	mitochondrial complex I deficiency, nuclear type 36; MC1DN36; mitochondrial complex 1 deficiency, nuclear type 36
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS5WUK9: Mitochondrial complex 1 deficiency, nuclear type 36
Disease Identifiers	MONDO ID MONDO_0030902 UMLS CUI C5436935 OMIM ID 619170 MedGen ID 1773965

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
NDUFC2	OT9M119L	Limited	Unknown	[1]
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References

1	Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Mol Med. 2020 Nov 6;12(11):e12619. doi: 10.15252/emmm.202012619. Epub 2020 Sep 24.