Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Among the remaining 70 cases there were patients with chromosome abnormalities which are not included in the DSD classification as well as rare NR5A1 variants of uncertain significance and hypergonadotropic hypogonadism and microorchidism in 46,XY subjects. 30372699 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE We have screened a cohort of 26 patients with 46,XX (ovo)testicular DSD and identified three unrelated individuals with this NR5A1 variant (p.Arg92Trp), as well as one patient with a novel NR5A1 variant (c.779C>T; p.Ala260Val). 30350900 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE A heterozygous NR5A1 mutation is one of the most frequent causes of 46,XY DSD (disorders of sex development). 30224582 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE To analyze nuclear receptor subfamily 5 group A member 1 (NR5A1) gene mutations in a cohort of Chinese patients with 46, XY Disorders of Sex Development (DSD). 30103258 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 AlteredExpression group BEFREE Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. 30067310 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE To study the functional properties of six novel missense mutations of the NR5A1 gene encoding the steroidogenic factor 1 (SF-1) identified in six patients with 46,XY disorders of sex development (DSD) and to describe their relative phenotype-genotype relationship. 29935645 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Our results suggest that the broad phenotype in these heterozygous NR5A1 46,XY DSD subjects may well be explained by an oligogenic mode of inheritance, in which multiple hits, individually non-deleterious, may contribute to a DSD phenotype unique to each heterozygous SF-1/NR5A1 individual. 29891883 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE In vitro functional analyses demonstrate that NR5A1 mutations impair protein functions and result in the DSD phenotype observed in our patients. 29027717 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. 29027299 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. 28459839 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 Biomarker group BEFREE In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). 28033660 2016
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). 27855412 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 Biomarker group 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
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Heterozygous SF1 loss-of-function mutations in these cases resulted in mild DSD manifestations, such as dysgenetic testes, spontaneous puberty, and preserved adrenal function. 27463801 2016
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Mutations in human NR5A1 are frequently associated with 46,XY disorders of sex development (DSD). 26260161 2016
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Heterozygous mutations of NR5A1, which encodes steroidogenic factor 1 (SF1), were identified in patients with 46,XY disorders of sex development (DSD) with normal adrenal function. 26139438 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE We investigate the frequency of NR5A1 mutations in an Egyptian cohort of XY DSD. 24591553 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Both homozygous, compound heterozygous and heterozygous mutations in the NR5A1 gene may determine 46,XY disorders of sex development (DSD). 24434652 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE The identification of heterozygous individuals with this novel mutation may bring additional knowledge on structural modifications that may influence NR5A1 DNA-binding ability, and may also contribute to genotype-phenotype correlations in DSD. 24405868 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 Biomarker group BEFREE To date microdeletions involving NR5A1 have been reported in only two patients with DSDs. 24056159 2013
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Individuals with NR5A1 mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of disorders of sexual development (DSD). 23969951 2013
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY patients and premature ovarian failure (POF) in 46,XX patients. 23918653 2013
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE NR5A1 loss-of-function mutations are increasingly found to be the cause of 46,XY disorders of sex development (DSD). 22909003 2013
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI). 22549935 2012
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. 22474171 2012