Details of Disease | DrugMAP

General Information of Disease (ID: DIS2J5JN)

Disease Name	Combined oxidative phosphorylation deficiency 33
Synonyms	COXPD33; combined oxidative phosphorylation deficiency 33
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DIS2J5JN: Combined oxidative phosphorylation deficiency 33
Disease Identifiers	MONDO ID MONDO_0054677 UMLS CUI C4540209 OMIM ID 617713 MedGen ID 1623699

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C1QBP	TTWTD7F	Strong	Autosomal recessive	[1]
C1QBP	TTWTD7F	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1QBP	OTPYQX3K	Strong	Autosomal recessive	[1]
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References

1	Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.