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GENE - TERM ANNOTATION REPORT

RGD ID: 736559
Species: Homo sapiens
RGD Object: Gene
Symbol: ESR1
Name: estrogen receptor 1
Acc ID: DOID:4448
Term: macular degeneration
Definition: A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration "DO" "DO", http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1 "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 IAGP 10045664RGDDNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) 
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