Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE Nucleotide sequence variants of the NR5A1 gene have been reported in numerous patients with GD with or without adrenal failure, however, microdeletion or partial deletion in the NR5A1 gene have been described only in a few GD cases. 31338750 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype. 29265478 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. 28459839 2017
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
0.400 Biomarker disease GENOMICS_ENGLAND A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. 26485283 2015
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 Biomarker disease BEFREE We recommend screening of NR5A1 in patients with hypospadias and gonadal dysgenesis. 24591553 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. 24231572 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE To date, NR5A1 variants have been found in individuals with a 46,XY karyotype and gonadal dysgenesis, as well as with a wide spectrum of genital anomalies and, in some patients, with adrenal insufficiency. 25160005 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE To further investigate the molecular mechanism by which NR5A1/SF-1 mutation led to gonadal dysgenesis with predominant Sertoli cell defect. 21163476 2011
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. 20453312 2010
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE Initially, mutations of SF-1/Ad4BP gene (NR5A1) in humans were identified in two 46, XY female patients with adrenal insufficiency and gonadal dysgenesis. 19318730 2009
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease BEFREE A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. 17656604 2007
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 Therapeutic disease RGD Transgenic rescue of SF-1-null mice. 16467257 2005
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 GeneticVariation disease LHGDN Of mice and men: The tale of steroidogenic factor-1. 15579738 2004
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.400 Biomarker disease HPO
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
0.400 Biomarker disease HPO
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.300 Biomarker disease CTD_human Fragile x syndrome. 22043169 2011
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE A heterozygous mutation in WT1 gene and a hemizygous mutation in SRY gene were detected in patients with gonadal dysgenesis. 27898418 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome). 27576690 2016
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE This revealed a novel and likely pathogenic missense variant (p.Arg130Pro, c.389G>C) in SRY, one of the major genes implicated in complete gonadal dysgenesis, hence securing this condition over androgen insensitivity syndrome as the cause of the patient's disorder of sexual development. 27821113 2016
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. 26871559 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms. 23624391 2013
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely. 20699606 2011
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis. 20838034 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. 20453312 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.200 GeneticVariation disease BEFREE This observation of somatic and germinal mosaicism for a SRY mutation may explain the variable penetrance in some familial gonadal dysgenesis. 19531589 2009