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 Biomarker disease BEFREE This study describes the cases of two families in which the association of DGD and POI enabled a diagnosis of NR5A1 deleterious variations. 31831369 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE However, studies in the past few years have shown that NR5A1 mutations can also contribute to primary ovarian insufficiency and impaired spermatogenesis. 29265478 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease BEFREE We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. 27490115 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Mutations in NR5A1 in 46,XX women are associated with primary ovarian insufficiency, which includes a lack of ovary formation, primary and secondary amenorrhoea as well as early menopause. 27378692 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. 28033660 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease. 25425520 2015
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease BEFREE Variants in SF-1/NR5A1 more commonly cause a spectrum of reproductive phenotypes ranging from 46,XY DSD (partial testicular dysgenesis or reduced androgen production) and hypospadias to male factor infertility or primary ovarian insufficiency. 26303087 2015
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency. 24405868 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE One hundred eighty patients diagnosed with idiopathic POI were screened for NR5A1 mutations and functional analysis was performed for the identified variants. 23543655 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease BEFREE Based on this finding, we screened patients with unexplained 46,XY DSD (n = 11), proximal hypospadias (n = 21) and 46,XX POF (n = 36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1. 23918653 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese women with non-syndromic POF. 24073220 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Genetic analysis of the NR5A1 gene in 26 XX girls with POI. 23153500 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency. 23299922 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Recently, a high frequency of NR5A1 gene mutations was reported in a small group of women with POI. 22100173 2012
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE A group of 100 46,XY DSD and two POI was studied for NR5A1 mutations and their impact. 22549935 2012
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Mutations in genes involved in the control of steroidogenesis, such as NR5A1 (SF-1, Steroidogenic Factor 1), CYP17, CYP19A1 (aromatase), StAR (Steroidogenic Acute Regulatory), and the forkhead transcription factor FOXL2 have been associated with different forms of POI. 21505076 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Furthermore, NR5A1 mutations have now been found in women with familial and sporadic 46,XX primary ovarian insufficiency without adrenal failure. 20595937 2010
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE Mutations of NR5A1 have been reported in 46,XY disorders of sex development and in 46,XX primary ovarian insufficiency. 20887963 2010
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 Biomarker disease CTD_human To test the hypothesis that mutations in NR5A1 cause disorders of ovarian development and function, we sequenced NR5A1 in four families with histories of both 46,XY disorders of sex development and 46,XX primary ovarian insufficiency and in 25 subjects with sporadic ovarian insufficiency. 19246354 2009
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.400 GeneticVariation disease BEFREE NR5A1 mutations are associated with 46,XX primary ovarian insufficiency and 46,XY disorders of sex development. 19246354 2009