Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE These observations suggest that the effectiveness of androgen supplementation in women with POA varies based on FMR1 genotypes, and defines androgen deficiency as a subset of diminished ovarian reserve. 22811313 2012
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE The number of CGG repeats on the FMR1 gene appears to represent a potentially useful new test in diagnosing risk toward diminished ovarian reserve and female infertility. 19642041 2009
Entrez Id: 268
Gene Symbol: AMH
AMH
0.100 GeneticVariation disease BEFREE To reveal whether intracyclic variation in AMH levels occurs among women with adequate, high and diminished ovarian reserve patterns. 28419409 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study). 27816231 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE 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). 24840722 2014
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE Based on the current evidence, we concluded that intermediate-sized FMR1 CGG repeat alleles should not be considered as a high-risk factor for POF and DOR. 27876427 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE Attitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserve. 24788194 2014
Entrez Id: 268
Gene Symbol: AMH
AMH
0.100 GeneticVariation disease BEFREE Case-control study comparing follicle densities in ovarian cortex from 20 infertile women with DOR (AMH ≤ 5 pmol/L) and 100 controls with presumed normal ovarian reserve. 31758514 2020
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE This large data set demonstrated that a high normal number of CGG repeats (35-54 repeats) on the FMR1 gene was not significantly correlated with DOR. 26345686 2015
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE The chromosomal abnormality observed in this family supports the presence of a DOR susceptibility locus in the distal Xq region and targets the POF1 region for further investigation. 21859812 2011
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation disease BEFREE In a prospective cohort study we investigated 213 women with DOR, stratified for age (≤ 38 or >38 years) and ovarian FMR1 genotypes/sub-genotypes. 23212832 2013
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
0.060 GeneticVariation disease BEFREE There were no significant differences between the DOR and control groups in terms of age, infertility duration and husband'' semen parameters; however, significant (P< 0.05) changes were found between the two groups in FSH, AMH and AFC levels. 30593438 2019
Entrez Id: 4985
Gene Symbol: OPRD1
OPRD1
0.030 GeneticVariation disease BEFREE This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea.Seventy-five percent participated. 16522406 2006
Entrez Id: 58476
Gene Symbol: TP53INP2
TP53INP2
0.030 GeneticVariation disease BEFREE This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea.Seventy-five percent participated. 16522406 2006
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
0.020 GeneticVariation disease BEFREE The GDF9 p.R146C mutation may be a source of DOR in some young women. 23851219 2013
Entrez Id: 6578
Gene Symbol: SLCO2A1
SLCO2A1
0.020 GeneticVariation disease BEFREE Determining the viability of slow-developing embryos is particularly relevant for women undergoing PGT-A who have diminished ovarian reserve and a relatively low blastocyst yield. 29546326 2018
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.020 GeneticVariation disease BEFREE A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine. 19031050 2009
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
0.020 GeneticVariation disease BEFREE G546A polymorphism of growth differentiation factor-9 contributes to the poor outcome of ovarian stimulation in women with diminished ovarian reserve. 20451184 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.020 GeneticVariation disease BEFREE The data suggest that PvuII polymorphism of ESR1 is associated with diminished ovarian reserve. 23522078 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.020 GeneticVariation disease BEFREE 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). 24840722 2014
Entrez Id: 59352
Gene Symbol: LGR6
LGR6
0.010 GeneticVariation disease BEFREE Analyses for gonadotropin receptor polymorphisms could not explain the characteristics of women with DOR. 31758514 2020
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.010 GeneticVariation disease BEFREE Components of the IGF gene family are downregulated in GCs of women with DOR. 21846690 2011
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.010 GeneticVariation disease BEFREE Sequence variation of the NR5A1 gene is a possibility that must be considered when a woman with POI or a diminished ovarian reserve has a family member or child with DGD. 31831369 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.010 GeneticVariation disease BEFREE In particular, (1) testicular and high-grade prostate cancer in male infertility; (2) non-fatal stroke and endometrial cancer, and likely non-fatal coronary heart disease and ovarian cancer in polycystic ovary syndrome; (3) osteoporosis, psychosexual dysfunction, mood disorders and dementia in premature ovarian failure; (4) breast and ovarian cancer in carriers of BRCA1/2 mutations in diminished ovarian reserve; (5) clear cell and endometrioid histologic subtypes of invasive ovarian cancer, and likely low-grade serous invasive ovarian cancer, melanoma and non-Hodgkin lymphoma in endometriosis; and (6) endometrial and ovarian cancer in idiopathic infertility. 25880215 2015
Entrez Id: 56478
Gene Symbol: EIF4ENIF1
EIF4ENIF1
0.010 GeneticVariation disease BEFREE A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing. 31810472 2019