Details of Disease | DrugMAP

General Information of Disease (ID: DISMJS4T)

Disease Name	Mitochondrial DNA depletion syndrome 18
Synonyms	MTDPS18; MITOCHONDRIAL DNA DEPLETION SYNDROME 18
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DISMJS4T: Mitochondrial DNA depletion syndrome 18
Disease Identifiers	MONDO ID MONDO_0032932 UMLS CUI C5394140 OMIM ID 618811 MedGen ID 1713890

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A21	DT2UQYR	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
SLC25A21	OTB78IF4	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.