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GENE - TERM ANNOTATION REPORT

RGD ID: 11975770
Species: Pan paniscus
RGD Object: Gene
Symbol: TMEM67
Name: transmembrane protein 67
Acc ID: DOID:0050978
Term: spinocerebellar ataxia type 29
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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