Details of Disease

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.