Details of Disease | DrugMAP

General Information of Disease (ID: DISISGZ2)

Disease Name	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Synonyms	SCAN
Disease Hierarchy	DISWBOUC: Autosomal recessive cerebellar ataxia DISN7YWO: DNA repair disease DISISGZ2: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Disease Identifiers	MONDO ID MONDO_0020771 UMLS CUI C1846574 MedGen ID 337609

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
UCHL3	TT23UD6	Strong	Altered Expression	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APTX	OTPAS5G8	Strong	Biomarker	[2]
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References

1	UCHL3 Regulates Topoisomerase-Induced Chromosomal Break Repair by Controlling TDP1 Proteostasis.Cell Rep. 2018 Jun 12;23(11):3352-3365. doi: 10.1016/j.celrep.2018.05.033.
2	Neurological disorders associated with DNA strand-break processing enzymes.Mech Ageing Dev. 2017 Jan;161(Pt A):130-140. doi: 10.1016/j.mad.2016.07.009. Epub 2016 Jul 25.