Details of Disease | DrugMAP

General Information of Disease (ID: DIS8S5LP)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 29
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS8S5LP: Mitochondrial complex 1 deficiency, nuclear type 29
Disease Identifiers	MONDO ID MONDO_0032633 UMLS CUI C4748830 OMIM ID 618250 MedGen ID 1648451

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
TMEM126B	OT8JJ5TP	Strong	Autosomal recessive	[1]
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References

1	Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30.