General Information of Disease (ID: DISQ05EW)

Disease Name Spinocerebellar ataxia, autosomal recessive 31
Synonyms spinocerebellar ataxia, autosomal recessive 31; SCAR31
Disease Hierarchy
DISWBOUC: Autosomal recessive cerebellar ataxia
DISQ05EW: Spinocerebellar ataxia, autosomal recessive 31
Disease Identifiers
MONDO ID
MONDO_0030323
UMLS CUI
C5543627
OMIM ID
619422
MedGen ID
1786855

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
ATG7 TTLVB9Z 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
ATG7 OTVT4YA1 Strong Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.