Details of Disease | DrugMAP

General Information of Disease (ID: DISO3LL4)

Disease Name	Obsolete mitochondrial complex I deficiency, nuclear type
Definition	Split this into a new term, this term had both a OMIMPS and OMIM class as equivalent.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISO3LL4: Obsolete mitochondrial complex I deficiency, nuclear type

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDUFS4	OTJKUYEE	Moderate	Autosomal recessive	[1]
NDUFS6	OT9IOONQ	Moderate	Autosomal recessive	[2]
NDUFA1	OTKBUQXP	Definitive	X-linked recessive	[3]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683.
3	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.