SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: XX males ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432475
Disease: XX males
XX males 		0.320 GermlineCausalMutation disease ORPHANET A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9. 24140641 2013
CUI: C0432475
Disease: XX males
XX males 		0.320 AlteredExpression disease BEFREE However, transgenic mouse studies have shown that ectopic expression of Sox3 in the bipotential gonad results in upregulation of Sox9, resulting in testicular induction and XX male sex reversal. 22678921 2012
CUI: C0432475
Disease: XX males
XX males 		0.320 AlteredExpression disease BEFREE Our data suggest that lesions affecting SOX9 expression are the key factor in sex determination in SRY-negative XX males, and that the decreased expression of Ad4BP/SF-1, DAX-1 and MIS contribute to their clinical features. 17986281 2008