Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 GeneticVariation disease BEFREE Far less clear is the possible involvement of NR5A1 mutations in cryptorchidism. 25989977 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 GeneticVariation disease BEFREE One novel heterozygotic SF-1 gene mutation was identified in a patient with perineal hypospadias and cryptorchidism, the patient's mother also had the same mutation.No mutation was found in the AR gene. 23729601 2013
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 AlteredExpression disease BEFREE All 23 non-germ cell tumor tissues showed strong nuclear SF-1 expression in Sertoli and/or Leydig cells [including testicular atrophy (10), cryptorchidism (2), normal testis (4), hypospermatogenesis (1), immature testis (1), intratubular large cell calcifying Sertoli cell tumor (1), Leydig cell tumor (3), and Sertoli only (1)]. 23165333 2013
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 GeneticVariation disease BEFREE SF-1 (NR5A1) mutations should be considered in 46,XY individuals with severe (penoscrotal) hypospadias, especially if undescended testes, low testosterone, or low inhibin B/AMH levels are present. 19439508 2009
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 GeneticVariation disease BEFREE Furthermore, a non-synonymous polymorphism in NR5A1 may be associated with micropenis or undescended testes within the population. 18987494 2008
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 GeneticVariation disease BEFREE Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. 16500365 2006
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 GeneticVariation disease LHGDN Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. 16500365 2006
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.160 Biomarker disease HPO