Details of Disease | DrugMAP

General Information of Disease (ID: DIS5PJ0W)

Disease Name	Obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS5PJ0W: Obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect

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
MRPS7	OT57AX7G	Supportive	Autosomal recessive	[1]
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References

1	Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2.