SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Pure gonadal dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE In this study, we report that a novel missense mutation in the SRY gene, a G to A transition within the HMG box, causes the Ala66Thr amino acid substitution in a female patient presenting 46,XY karyotype with pure gonadal dysgenesis. 29378242 2018
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. 25153220 2015
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. 21242195 2011
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis. 19007850 2009
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Mutations in SRY almost always result in XY sex reversal with pure gonadal dysgenesis and an increased risk of gonadal tumor. 19531589 2009
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Herein, we describe a young girl with pure gonadal dysgenesis and her father carrying a novel familial mutation in the SRY gene at codon number 3. 17063144 2007
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Point mutations and deletions in the SRY gene result in XY sex reversal in pure gonadal dysgenesis. 15687343 2005
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Mutations in SRY gene result in XY sex reversal and pure gonadal dysgenesis. 15155818 2004
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 Biomarker disease BEFREE This constitutes the first report where mutations of DHH are associated with the presence of 46,XY complete PGD, demonstrating that the genetic origin of this entity is heterogeneous and that disorders in other genes, different from SRY, involved in the testis-determining pathway are implicated in abnormal testicular differentiation in humans. 15356051 2004
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE This substitution affects a highly conserved tyrosine residue in the HMG box of SRY, in which two de novo mutations have been described previously in XY females with PGD. 12107262 2002
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Mutations of SRY (testis-determining gene) constitute the cause of XY sex reversal in approximately 10-15% of females with pure gonadal dysgenesis. 10843173 2000
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE We tested a female patient with 46,XY karyotype and pure gonadal dysgenesis for the presence of the SRY gene and for mutations within the SRY conserved domain. 10821226 2000
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Here, we distinguish between these activities by analysis of a mutant SRY associated with human sex reversal (46, XY female with pure gonadal dysgenesis). 7718558 1995
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE These data indicate that the majority of XY females with pure gonadal dysgenesis owe their sex-reversed phenotype to mutations in as yet uncharacterised segments of the SRY gene, or, at other loci acting early in the sex-determining pathway. 8353496 1993
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		0.100 GeneticVariation disease BEFREE Here we describe an XY sex-reversed female with pure gonadal dysgenesis who harbors a de novo nonsense mutation in the SRY open reading frame (SRY-orf). 1639410 1992