Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
0.070 GeneticVariation group BEFREE DNA analysis of the SRD5A2 gene was performed in three inbred affected individuals clinically diagnosed with DSD. 31613402 2020
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
0.070 GeneticVariation group BEFREE We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q) in patients with 5α-reductase deficiency. 31277073 2019
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
0.070 Biomarker group BEFREE However, extensive studies have been carried out in humans, showing that polymorphisms and mutations of numerous genes, including SRY, MAMLD1, SRD5A2, and AR, are associated with or responsible for XY DSD. 31055572 2019
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
0.070 GeneticVariation group BEFREE In this study, we aimed to determine androgen receptor (AR) and SRD5A2 gene mutations in 45 patients characterised by 46,XY Disorders of Sex Differentiation (DSD) signs with normal testicular development referred to the Children's Medical Center from February 2015 to September 2017. 30815925 2019
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
0.070 GeneticVariation group BEFREE Our present study analyzed SRD5A2 gene mutations in eight unrelated 46,XY Chinese patients with disorders of sex development. 20736251 2011
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
0.070 GeneticVariation group BEFREE USP and SRD5A2 genetic analyses were performed in 23 adult females, aged 19-57 years, with 46XY DSD and in four males with confirmed SRD5A2 deficiency. 21402750 2011
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
0.070 Biomarker group BEFREE The aim of this study was to assess the clinical and endocrinological features, and to analyze AR and SRD5A2 genes in patients with 46,XY disorders of sex development (DSD). 18717241 2008