Details of Disease | DrugMAP

General Information of Disease (ID: DIS2OA53)

Disease Name	Spinocerebellar ataxia, autosomal recessive 27
Synonyms	SCAR27; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
Disease Hierarchy	DISWBOUC: Autosomal recessive cerebellar ataxia DIS2OA53: Spinocerebellar ataxia, autosomal recessive 27
Disease Identifiers	MONDO ID MONDO_0032706 UMLS CUI C5193058 OMIM ID 618369 MedGen ID 1672866

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
GDAP2	OTIV1WSL	Strong	Autosomal recessive	[1]
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References

1	GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.