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GENE - TERM ANNOTATION REPORT

RGD ID: 735920
Species: Mus musculus
RGD Object: Gene
Symbol: Fmr1
Name: fragile X messenger ribonucleoprotein 1
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)
Fmr1 IMP 11566028RGD  
Fmr1 ISOFmr1 (Rattus norvegicus)11566052RGD  
Fmr1 ISOFmr1 (Rattus norvegicus)38501107RGD  
Fmr1 ISOFmr1 (Rattus norvegicus)38548926RGDDNA:deletion:intron 7, exon 8: 
Fmr1 ISOFmr1 (Rattus norvegicus)38548928RGDcompared to SD control;DNA:deletion:intron 7, exon 8: 
Fmr1 ISOFmr1 (Rattus norvegicus)401976434RGD  
Fmr1 ISOFMR1 (Homo sapiens)1601178RGDDNA:trinucleotide expansion 
Fmr1 ISOFMR1 (Homo sapiens)7240710OMIM  
Fmr1 ISOFMR1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15028757 PMID:16043816 PMID:16510718 PMID:17065172 PMID:18835858 PMID:20300527 PMID:22043169 PMID:28616095
Fmr1 ISOFMR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fragile X syndromePMID:15805463 PMID:18664458 PMID:21267007 PMID:25171808 PMID:25741868 PMID:33181255 PMID:35091116 PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 PMID:9659908
Fmr1 IAGP 13592920MouseDOOMIM:300624 
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