Details of Disease | DrugMAP

General Information of Disease (ID: DISE8EKL)

Disease Name	Mitochondrial DNA depletion syndrome 17
Synonyms	MTDPS17; MITOCHONDRIAL DNA DEPLETION SYNDROME 17
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DISE8EKL: Mitochondrial DNA depletion syndrome 17
Disease Identifiers	MONDO ID MONDO_0032815 UMLS CUI C5231412 OMIM ID 618567 MedGen ID 1684823

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MRM2	TTUQ7WN	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MRM2	OTRYA1HU	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.