Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE We explored whether AMH, as a surrogate for oocyte supply, varies by FMR1 genotype in women diagnosed with diminished ovarian reserve (DOR), a subset of the Primary Ovarian Insufficiency phenotype. 24938362 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Premature ovarian failure and the FMR1 gene. 11299521 2000
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease BEFREE The FMR1 CGG repeat number was determined by PCR amplification in women diagnosed with POI and women with a known age at natural menopause ≥40 years. 24812319 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9). 10331614 1999
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE The NXF5 gene is an appealing candidate for POF because it shows functional homology with the FMR1 (fragile X mental retardation 1) gene. 20338563 2010
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis. 27841182 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease BEFREE These results are clinically relevant and suggest that the FMR1 gene plays a more significant role in the incidence of POF than has previously been thought. 16078053 2005
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene. 20425835 2010
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease LHGDN Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome. 16708166 2006
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Premutation and intermediate CGG repeat length at the fragile X mental retardation 1 (FMR1) locus have been associated with premature ovarian failure. 24423935 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease BEFREE Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI). 29179771 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease LHGDN One in 3.5 women with a family history of fragile X and 1 in 10 with premature ovarian failure had a FMR1 mutation. 18310361 2008
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease LHGDN Premature ovarian failure and fragile X premutation: a study on 45 women. 14746957 2004
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE The FMR1 premutation (55-200 repeats) is a known cause of primary ovarian insufficiency. 26345686 2015
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE To increase awareness of the unique clinical and ethical considerations invoked by the request of a patient with premature ovarian failure (POF) and her nulliparous sister, both with intermediate-size mutations in fragile X mental retardation 1 (FMR1), to pursue sibling ovum donation. 19410248 2009
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Diagnosis was made subsequently to the evaluation of a FMR1 premutation as the cause for maternal premature ovarian failure. 25027833 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE First, the couples have to be informative (the number of triplet repeats on the healthy FMR-1 allele of the mother has to be different from the number of repeats on the healthy FMR-1 allele of the father) and second, women with a premutation are at increased risk of premature ovarian failure. 12407031 2002
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease LHGDN These results are clinically relevant and suggest that the FMR1 gene plays a more significant role in the incidence of POF than has previously been thought. 16078053 2005
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI). 27230899 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease BEFREE The FMR1 gene is involved in three different syndromes: fragile X syndrome (FXS), primary ovarian insufficiency (POI), and fragile X-associated tremor/ataxia syndrome (FXTAS) in older patients. 19631721 2009
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Women who carry the FMR1 PM are at 20-fold increased risk to develop primary ovarian insufficiency (FXPOI). 26537920 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). 27552334 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. 23703681 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1). 24418349 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. 10729312 2000