SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Congenital absence of both testes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.030 GeneticVariation disease BEFREE We confirmed previous reports that mutations in the SRY gene are not associated with anorchia. 15579790 2004
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.030 Biomarker disease BEFREE SRY gene is present in our BCA patients as well as in normal boys, and therefore BCA does not seem related to an anomaly of the opening reading frame sequence of the SRY gene. 10584191 1999
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.030 GeneticVariation disease BEFREE These data suggest that, in the four patients, bilateral congenital anorchia is not related to an anomaly of the opening reading frame sequence of the SRY gene. 8435900 1993