Details of Disease | DrugMAP

General Information of Disease (ID: DISFRW0B)

Disease Name	Luo-Schoch-Yamamoto syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISFRW0B: Luo-Schoch-Yamamoto syndrome
Disease Identifiers	MONDO ID MONDO_0859171 UMLS CUI C5561946 OMIM ID 619460 MedGen ID 1794156

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
RNF2	OTFPLOIN	Strong	Autosomal dominant	[1]
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References

1	Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Hum Mol Genet. 2021 Jun 26;30(14):1283-1292. doi: 10.1093/hmg/ddab110.