Details of Disease | DrugMAP

General Information of Disease (ID: DISG204L)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 21
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISG204L: Mitochondrial complex 1 deficiency, nuclear type 21
Disease Identifiers	MONDO ID MONDO_0032625 UMLS CUI C4748792 OMIM ID 618242 MedGen ID 1648383

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
NUBPL	OTQMCSXT	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.