SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: 46, XY female ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.100 GeneticVariation disease BEFREE Three XX males, two XX true hermaphrodites, and an XY female were studied for possible deletions using probes for the recently characterised SRY gene and the pseudoautosomal boundary. 1956056 1991
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.100 GeneticVariation disease BEFREE Mutations in SRY have been found in XY females, strongly implicating SRY as the testis-determining gene. 1840875 1991
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.100 GeneticVariation disease BEFREE We have tested human XY females and normal XY males for alterations in SRY using the single-strand conformation polymorphism assay and subsequent DNA sequencing. 2247149 1990
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.100 GeneticVariation disease BEFREE We have now identified a mutation in SRY in one out of 12 sex-inversed XY females with gonadal dysgenesis who do not lack large segments of the short arm of the Y chromosome. 2247151 1990