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 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 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 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 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 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 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 Biomarker disease BEFREE We screened five XX true hermaphrodites and 24 subjects with gonadal dysgenesis caused by Y aneuploidy for the presence or absence of SRY. 1471700 1992