Details of Disease | DrugMAP

General Information of Disease (ID: DISHJMNW)

Disease Name	Combined oxidative phosphorylation deficiency 32
Synonyms	COXPD32; combined oxidative phosphorylation deficiency 32
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISHJMNW: Combined oxidative phosphorylation deficiency 32
Disease Identifiers	MONDO ID MONDO_0054654 UMLS CUI C4540029 OMIM ID 617664 MedGen ID 1617600

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EME2	OT0EJCL0	Strong	Genetic Variation	[1]
MRPS34	OT7P9V67	Strong	Autosomal recessive	[1]
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References

1	Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005.