Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 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
0.400 Biomarker disease CTD_human Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome). 27576690 2016
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. 25153220 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE We report a case of mixed GD due to a novel SRY point mutation in a patient with a 46,XY karyotype, without mosaicism or submicroscopic genomic imbalances. 22441105 2012
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE In 10-15% of 46,XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found to affect nuclear transport or binding to and bending of DNA. 22815844 2012
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. 22288726 2012
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. 20838034 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE SRY mutations residing in the HMG domain are found in 10-15% of 46,XY gonadal dysgenesis cases. 19513096 2009
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. 18990383 2009
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease LHGDN Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. 18990383 2009
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Second, the location of the mutation was in the HMG box region of the SRY gene, in contrast to the other partial cases of 46,XY gonadal dysgenesis. 17493621 2007
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE The molecular basis of Swyer syndrome is still unknown, although the presence of mutations in testicular organizing genes downstream of SRY is still to rule out. 15183752 2005
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Mutations in the SRY gene have been considered to account for only 10-15% of 46,XY gonadal dysgenesis cases, whereas the majority of the remaining cases may have mutation(s) in the SRY regulatory elements or other genes involved in the sex differentiation pathway. 15155818 2004
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis. 15008251 2003
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her Y chromosome. 10803875 2000
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis. 10821226 2000
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Mutations in the sex-determining region of the Y chromosome (the SRY gene) have been reported in low frequency in patients with 46,XY gonadal dysgenesis. 9521592 1998
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. 9341876 1997
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome). 8105086 1993
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE Approaches for evaluating SRY as a candidate for TDF included the finding of mutations in SRY in the genomes of patients with failed testis development (XY females or 46,XY gonadal dysgenesis) and the production of female to male sex reversed mice transgenic for the mouse homologue of SRY, [Sry]. 8257986 1993
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 GeneticVariation disease BEFREE In order to evaluate the role of SRY in the determination of the testis, we sequenced the conserved domain of the SRY gene in 8 patients with 46,XY gonadal dysgenesis and 3 patients with related disorders, and compared our data with those obtained in 6 other similar studies. 1487248 1992
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.400 Biomarker disease BEFREE The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). 1750489 1991
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.350 GeneticVariation disease BEFREE In conclusion, we present 4 novel mutations of the NR5A1 gene associated with 46,XY GD together with in vitro data pointing towards a possible functional impairment of the mutant SF-1 proteins. 29190620 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.350 GeneticVariation disease BEFREE Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. 27610946 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
0.350 GeneticVariation disease BEFREE Here, exome sequencing identified 2 pathogenic de novo NR5A1 mutations in 2 patients with 46,XY gonadal dysgenesis, p.Q206Tfs*20 and p.Arg313Cys. 27169744 2016