Details of Disease | DrugMAP

General Information of Disease (ID: DISQ7R0C)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 31
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISQ7R0C: Mitochondrial complex 1 deficiency, nuclear type 31
Disease Identifiers	MONDO ID MONDO_0032634 UMLS CUI C4748838 OMIM ID 618251 MedGen ID 1648395

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
TIMMDC1	OTIK4I5R	Strong	Autosomal recessive	[1]
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References

1	Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.