Details of Disease

General Information of Disease (ID: DIS8YDIH)

Disease Name Combined oxidative phosphorylation deficiency 49
Synonyms COXPD49; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49
Disease Hierarchy
DISYKSRF: Genetic disease
DIS8YDIH: Combined oxidative phosphorylation deficiency 49
Disease Identifiers
MONDO ID
MONDO_0033569
UMLS CUI
C5436616
OMIM ID
619024
MedGen ID
1762338

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
MIEF2 OT7VB4AM Limited Unknown [1]
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References

1 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.