SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
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 		0.330 AlteredExpression disease BEFREE This is the first demonstration of altered SOX3 expression in an individual with XX male sex reversal and suggests that SOX3 can substitute for SRY to initiate male development in humans. 25781358 2015
CUI: C0432475
Disease: XX males
XX males 		0.330 Biomarker disease BEFREE These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. 22678921 2012
CUI: C0432475
Disease: XX males
XX males 		0.330 GermlineCausalMutation disease ORPHANET These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. 22678921 2012
CUI: C0432475
Disease: XX males
XX males 		0.330 GermlineCausalMutation disease ORPHANET Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. 21183788 2011
CUI: C0432475
Disease: XX males
XX males 		0.330 GeneticVariation disease BEFREE Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. 21183788 2011