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GENE - TERM ANNOTATION REPORT

RGD ID: 1565592
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aff2
Name: ALF transcription elongation factor 2
Acc ID: DOID:14261
Term: fragile X syndrome
Definition: A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Fragile_X_syndrome "DO" "DO", http://omim.org/entry/300624 "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 "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)
Aff2 ISOAFF2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
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