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VARIANT - TERM ANNOTATION REPORT

RGD ID: 38461698
Species: Homo sapiens
RGD Object: Variant
Symbol: CV918950
Name: NM_016175.4(MRNIP):c.937G>T (p.Glu313Ter)
Acc ID: DOID:0081364
Term: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Definition: A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/27545679/ "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)
CV918950 IAGP 8554872ClinVarClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetPMID:25741868
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