Details of Disease | DrugMAP

General Information of Disease (ID: DIS0K7HY)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 33
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33; MC1DN33
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS0K7HY: Mitochondrial complex 1 deficiency, nuclear type 33
Disease Identifiers	MONDO ID MONDO_0032636 UMLS CUI C4748840 OMIM ID 618253 MedGen ID 1648420

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
NDUFA6	OTEOIIOL	Strong	Autosomal recessive	[1]
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References

1	High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5.