Details of Disease | DrugMAP

General Information of Disease (ID: DIS240OD)

Disease Name	Spinocerebellar ataxia, autosomal recessive 28
Synonyms	SCAR28; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28
Disease Hierarchy	DISWBOUC: Autosomal recessive cerebellar ataxia DIS240OD: Spinocerebellar ataxia, autosomal recessive 28
Disease Identifiers	MONDO ID MONDO_0032923 UMLS CUI C5394101 OMIM ID 618800 MedGen ID 1712568

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
THG1L	OTUK054V	Strong	Autosomal recessive	[1]
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References

1	A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics. 2016 Oct;17(4):219-225. doi: 10.1007/s10048-016-0487-z. Epub 2016 Jun 15.