SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Gonadal Dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		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
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome). 27576690 2016
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		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
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. 26871559 2015
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms. 23624391 2013
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		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
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis. 20838034 2010
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		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
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		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
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease LHGDN DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis. 19007850 2009
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE Subsequent study revealed that she is a 46 XY phenotypic female adolescent with complete gonadal dysgenesis and with no alterations of the sex-determining region Y gene. 18580319 2008
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. 17493621 2007
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype. 16675314 2007
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 Biomarker disease BEFREE Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis. 15665984 2005
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease LHGDN Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation. 15155818 2004
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. 15211655 2004
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE The architectural transcription factor SRY (sex-determining region of the Y chromosome) plays a key role in sex determination as indicated by the fact that mutations in SRY are responsible for XY gonadal dysgenesis in humans. 12764225 2003
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE The Wilms' tumor 1 (WT1) and sex-determining region of the Y chromosome (SRY) genes are essential for development of the mammalian gonads and mutations in these genes are associated with gonadal dysgenesis in humans. 12970737 2003
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease LHGDN Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. 12483463 2002
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis. 11780190 2001
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 10852465 2000
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. 9678356 1998
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE We found a missense mutation at codon 18 upstream of the 5' border of the HMG box of the SRY gene in one patient with partial gonadal dysgenesis. 9521592 1998
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. 9341876 1997
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 GeneticVariation disease BEFREE A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis. 8834258 1996