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GENE - TERM ANNOTATION REPORT

RGD ID: 730855
Species: Homo sapiens
RGD Object: Gene
Symbol: SOD1
Name: superoxide dismutase 1
Acc ID: DOID:0050879
Term: fragile X-associated tremor/ataxia syndrome
Definition: A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome "DO" "DO", http://omim.org/entry/300623 "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18195136 "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)
SOD1 ISOSod1 (Mus musculus)8655858RGDmRNA:increased expression:prefrontal cortex, brain stem (mouse) 
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