Details of Disease | DrugMAP

General Information of Disease (ID: DISN2Y44)

Disease Name	Spinocerebellar ataxia 50
Disease Hierarchy	DISYMHUK: Spinocerebellar ataxia DISN2Y44: Spinocerebellar ataxia 50
Disease Identifiers	MONDO ID MONDO_0859334 UMLS CUI C5774272 OMIM ID 620158 MedGen ID 1824045

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
NPTX1	OTKVHCV0	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407.