SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Testicular dysgenesis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		0.020 GeneticVariation disease BEFREE The father of the three children presented with hypospadias; cryptorchidism; testicular seminoma and oligoasthenozoospermia, an association termed testicular dysgenesis syndrome (TDS); and the SRY mutation in a mosaic state in the peripheral blood and the tumor. 19531589 2009
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		0.020 AlteredExpression disease BEFREE Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. 18271004 2008