Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 MUTATION
ESR1 MUTATION
Associated Disease
Diminished ovarian reserve
Source Database
DisGeNET
Description
Twenty-one articles identified genes associated with DOR: one gene mutation (FMR1), three polymorphisms (GDF9, FSHR, and ESR1), and seven genes differentially expressed between women with DOR and controls (AMH, LHCGR, IGF1, IGF2, IGF1R, IGF2R and GREM1).
Pubmed
24840722
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs