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GENE - TERM ANNOTATION REPORT

RGD ID: 628651
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gm2a
Name: ganglioside GM2 activator
Acc ID: DOID:1289
Term: neurodegenerative disease
Definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Degenerative_disease "DO" "DO", http://en.wikipedia.org/wiki/Neurodegeneration "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)
Gm2a ISOGM2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophyPMID:25558065 PMID:25741868 PMID:26203402 PMID:28417072 PMID:28492532 PMID:33456446
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