SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: 46, XX Testicular Disorders of Sex Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 AlteredExpression disease BEFREE We previously reported 5 cases of SRY-negative 46,XX testicular disorders of sex development and demonstrated that coordinated expression of genes such as SOX9, SOX3, and DAX1 was associated with testicular development. 24149105 2013
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 GermlineCausalMutation disease ORPHANET XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. 22678921 2012
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 GermlineCausalMutation disease ORPHANET Identification of SOX3 as an XX male sex reversal gene in mice and humans. 21183788 2011