SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: Swyer Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 22051515 2011
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		0.310 Biomarker disease BEFREE Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations. 9002675 1997