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 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 A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure. 19318730 2009
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 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 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 As NR5A1 mutations can cause a wide spectrum of DSD with relatively high frequency, the analysis of the NR5A1 gene by MLPA is quite important and should be extended to larger groups of patients. 21654157 2011
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.100 GeneticVariation group BEFREE Karyotyping was done and the patients were screened for underlying changes in SRY, desert hedgehog (DHH), DAX1 (NR0B1) and SF1 (NR5A1) genes, mutations in which are implicated in DSD. 21242195 2011
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 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 Biomarker group BEFREE Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. 21129722 2010