SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient. 31361042 2019
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. 29378242 2018
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. 28787711 2017
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 Biomarker disease CTD_human Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome). 27576690 2016
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome). 27576690 2016
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. 28030592 2016
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
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
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 Biomarker disease BEFREE A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis. 21868002 2011
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
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
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. 18990383 2009
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE Mutations of the SRY gene are reported to be associated with XY pure gonadal dysgenesis. 17063144 2007
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. 15665984 2005
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
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
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
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
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. 9341876 1997
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 GeneticVariation disease BEFREE Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother. 7951580 1994
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
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
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 Biomarker disease BEFREE The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay and DNA sequencing. 1415266 1992
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
0.400 Biomarker disease BEFREE The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). 1750489 1991