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GENE - TERM ANNOTATION REPORT

RGD ID: 2581
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Esr1
Name: estrogen receptor 1
Acc ID: DOID:0070249
Term: autosomal dominant Emery-Dreifuss muscular dystrophy 4
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17761684 "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)
Esr1 ISOESR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominantPMID:25741868 PMID:26467025 PMID:28492532
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