Details of Disease | DrugMAP

General Information of Disease (ID: DISB4BKE)

Disease Name	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Synonyms	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3
Disease Hierarchy	DISISGZ2: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy DISB4BKE: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Disease Identifiers	MONDO ID MONDO_0020770 UMLS CUI C5193070 OMIM ID 618387 MedGen ID 1673607

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
COA7	OTRQJYL6	Strong	Autosomal recessive	[1]
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References

1	COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. J Med Genet. 2016 Dec;53(12):846-849. doi: 10.1136/jmedgenet-2016-104194. Epub 2016 Sep 28.