General Information of Disease (ID: DISL5KY2)

Disease Name Spinocerebellar ataxia, autosomal recessive 26
Synonyms autosomal recessive spinocerebellar ataxia 26; SCAR26; spinocerebellar ataxia, autosomal recessive 26
Disease Hierarchy
DISWBOUC: Autosomal recessive cerebellar ataxia
DISL5KY2: Spinocerebellar ataxia, autosomal recessive 26
Disease Identifiers
MONDO ID
MONDO_0033116
UMLS CUI
C4539948
OMIM ID
617633
MedGen ID
1617917

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
XRCC1 OTWRV4S2 Limited Unknown [1]
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References

1 XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. 2017 Jan 5;541(7635):87-91. doi: 10.1038/nature20790. Epub 2016 Dec 21.