Details of Disease | DrugMAP

General Information of Disease (ID: DISVJXKB)

Disease Name	Moyamoya disease 2
Synonyms	MYMY2; moyamoya disease 2, susceptibility to; Moyamoya disease 2; Moyamoya disease type 2; RNF213 Moyamoya disease; Moyamoya disease caused by mutation in RNF213
Definition	Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.
Disease Hierarchy	DISO62CA: Moyamoya disease DISVJXKB: Moyamoya disease 2
Disease Identifiers	MONDO ID MONDO_0011784 UMLS CUI C1846689 OMIM ID 607151 MedGen ID 339584

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
RNF213	OT4OVE9O	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	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.