General Information of Disease (ID: DISQM54F)

Disease Name Spinocerebellar ataxia, autosomal recessive 32
Disease Hierarchy
DISWBOUC: Autosomal recessive cerebellar ataxia
DISQM54F: Spinocerebellar ataxia, autosomal recessive 32
Disease Identifiers
MONDO ID
MONDO_0859245
UMLS CUI
C5676978
OMIM ID
619862
MedGen ID
1802496

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
PRDX3 OTLB2WEU Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain. 2021 Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071.