Details of Disease

General Information of Disease (ID: DISA4S68)

Disease Name Mitochondrial complex 1 deficiency, nuclear type 4
Synonyms MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4
Disease Hierarchy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DISA4S68: Mitochondrial complex 1 deficiency, nuclear type 4
Disease Identifiers
MONDO ID
MONDO_0032609
UMLS CUI
C4748753
OMIM ID
618225
MedGen ID
1648324

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
NDUFV1 OTEVK4WW Definitive Autosomal recessive [1]
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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.