Details of Disease | DrugMAP

General Information of Disease (ID: DISW6SXV)

Disease Name	Spinocerebellar ataxia, autosomal recessive 30
Synonyms	spinocerebellar ataxia, autosomal recessive 30; SCAR30
Disease Hierarchy	DISWBOUC: Autosomal recessive cerebellar ataxia DISW6SXV: Spinocerebellar ataxia, autosomal recessive 30
Disease Identifiers	MONDO ID MONDO_0030318 UMLS CUI C5543620 OMIM ID 619405 MedGen ID 1778853

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
PITRM1	OTDEAZ8K	Strong	Autosomal recessive	[1]
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References

1	Defective PITRM1 mitochondrial peptidase is associated with A amyloidotic neurodegeneration. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894.