Details of Disease | DrugMAP

General Information of Disease (ID: DIS52QKZ)

Disease Name	Spinocerebellar ataxia, autosomal recessive 23
Synonyms	spinocerebellar ataxia autosomal recessive type 23; SCAR23; autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency; spinocerebellar ataxia, autosomal recessive 23; spinocerebellar ataxia, autosomal recessive type 23
Disease Hierarchy	DISQGHO3: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome DIS52QKZ: Spinocerebellar ataxia, autosomal recessive 23
Disease Identifiers	MONDO ID MONDO_0014846 UMLS CUI C4750914 OMIM ID 616949 MedGen ID 1667331 Orphanet ID 404493 SNOMED CT ID 773498006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TDP2	TTYF26D	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TDP2	OT1K0UMV	Strong	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.