Details of Disease

General Information of Disease (ID: DISUCV9F)

Disease Name Mitochondrial complex 1 deficiency, nuclear type 11
Synonyms MC1DN11; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
Disease Hierarchy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DISUCV9F: Mitochondrial complex 1 deficiency, nuclear type 11
Disease Identifiers
MONDO ID
MONDO_0032617
UMLS CUI
C4748769
OMIM ID
618234
MedGen ID
1648356

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
NDUFAF1 OTYK9JU6 Limited 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.