Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.100 Biomarker disease BEFREE The association between the FMR1 premutation (50-200 CGG repeats) and the premature ovarian failure (POF) suggests that epigenetic disorders of FMR1 can act as a risk factor for the DOR as well. 29308622 2018
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.100 Biomarker disease BEFREE Correlations were performed between normal-range FMR1 length and baseline serum anti-Müllerian hormone (AMH), cycle day 3 follicle stimulating hormone (FSH), ovarian volumes (OV), antral follicle counts (AFC), and incidence of diminished ovarian reserve (DOR), while controlling for the effect of age. 27189053 2016
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.100 Biomarker disease BEFREE AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level. 24938362 2014
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.100 Biomarker disease BEFREE Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve. 22581803 2012
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
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
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.100 Biomarker 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