Details of Disease | DrugMAP

General Information of Disease (ID: DISOO5SN)

Disease Name	Exercise intolerance, riboflavin-responsive
Synonyms	RREI; exercise intolerance, riboflavin-responsive
Disease Hierarchy	DISYKSRF: Genetic disease DISOO5SN: Exercise intolerance, riboflavin-responsive
Disease Identifiers	MONDO ID MONDO_0014795 UMLS CUI C4225187 OMIM ID 616839 MedGen ID 896368

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
SLC25A32	DTM8E7H	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A32	OTPP3NWG	Limited	Unknown	[2]
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References

1	Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.